Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.100920655A=CA1806088987YWHAZc.*38T= (n.*38T=)
c.431T= (n.431T=)
8g.100920655A>GCA2688116755YWHAZc.*38T>C (n.*38T>C)
c.431T>C (n.431T>C)
gnomAD v4
8g.100920655A>TCA584007066YWHAZc.*38T>A (n.*38T>A)
c.431T>A (n.431T>A)
dbSNP gnomAD v2 gnomAD v4
8g.100920657delCA2688116756YWHAZc.*38del (n.*38del)
c.431del (n.431del)
gnomAD v4
8g.100920656A>CCA2688116757YWHAZc.*37T>G (n.*37T>G)
c.430T>G (n.430T>G)
gnomAD v4
8g.100920656A>GCA2688116758YWHAZc.*37T>C (n.*37T>C)
c.430T>C (n.430T>C)
gnomAD v4
8g.100920657A>GCA2688116759YWHAZc.*36T>C (n.*36T>C)
c.429T>C (n.429T>C)
gnomAD v4
8g.100920659T>CCA2688116760YWHAZc.*34A>G (n.*34A>G)
c.427A>G (n.427A>G)
gnomAD v4
8g.100920661T>CCA2537153689YWHAZc.*32A>G (n.*32A>G)
c.425A>G (n.425A>G)
gnomAD v4
8g.100920662A=CA1806088988YWHAZc.*31T= (n.*31T=)
c.424T= (n.424T=)
8g.100920662A>GCA1806088989YWHAZc.*31T>C (n.*31T>C)
c.424T>C (n.424T>C)
dbSNP
8g.100920663G>CCA4829771YWHAZc.*30C>G (n.*30C>G)
c.423C>G (n.423C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920663G=CA1806088990YWHAZc.*30C= (n.*30C=)
c.423C= (n.423C=)
8g.100920663G>TCA2579219754YWHAZc.*30C>A (n.*30C>A)
c.423C>A (n.423C>A)
gnomAD v4
8g.100920664A=CA1806088991YWHAZc.*29T= (n.*29T=)
c.422T= (n.422T=)
8g.100920664A>CCA4829772YWHAZc.*29T>G (n.*29T>G)
c.422T>G (n.422T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920666T>GCA4829773YWHAZc.*27A>C (n.*27A>C)
c.420A>C (n.420A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920666T=CA1806088992YWHAZc.*27A= (n.*27A=)
c.420A= (n.420A=)
8g.100920667G>ACA584007067YWHAZc.*26C>T (n.*26C>T)
c.419C>T (n.419C>T)
dbSNP gnomAD v2 gnomAD v4
8g.100920667G>CCA2688116761YWHAZc.*26C>G (n.*26C>G)
c.419C>G (n.419C>G)
gnomAD v4
8g.100920667G=CA1806088993YWHAZc.*26C= (n.*26C=)
c.419C= (n.419C=)
8g.100920668A=CA1806088994YWHAZc.*25T= (n.*25T=)
c.418T= (n.418T=)
8g.100920668A>GCA1806088995YWHAZc.*25T>C (n.*25T>C)
c.418T>C (n.418T>C)
dbSNP gnomAD v4
8g.100920671C>GCA2688116762YWHAZc.*22G>C (n.*22G>C)
c.415G>C (n.415G>C)
gnomAD v4
8g.100920672A=CA1806088996YWHAZc.*21T= (n.*21T=)
c.414T= (n.414T=)
8g.100920672A>TCA4829774YWHAZc.*21T>A (n.*21T>A)
c.414T>A (n.414T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920673G>CCA2688116763YWHAZc.*20C>G (n.*20C>G)
c.413C>G (n.413C>G)
gnomAD v4
8g.100920675C>GCA2531638102YWHAZc.*18G>C (n.*18G>C)
c.411G>C (n.411G>C)
gnomAD v4
8g.100920675_100920677delinsCAACA1806088997YWHAZc.*16_*18delinsTTG (n.*16_*18delinsTTG)
c.409_411delinsTTG (n.409_411delinsTTG)
8g.100920676A=CA1806088998YWHAZc.*17T= (n.*17T=)
c.410T= (n.410T=)
8g.100920676A>CCA1117189885YWHAZc.*17T>G (n.*17T>G)
c.410T>G (n.410T>G)
dbSNP gnomAD v3 gnomAD v4
8g.100920676A>GCA2535224694YWHAZc.*17T>C (n.*17T>C)
c.410T>C (n.410T>C)
8g.100920678_100920679delCA1117189884YWHAZc.*16_*17del (n.*16_*17del)
c.409_410del (n.409_410del)
dbSNP gnomAD v3 gnomAD v4
8g.100920677A=CA1806088999YWHAZc.*16T= (n.*16T=)
c.409T= (n.409T=)
8g.100920677A>GCA584007068YWHAZc.*16T>C (n.*16T>C)
c.409T>C (n.409T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920679A=CA1806089000YWHAZc.*14T= (n.*14T=)
c.407T= (n.407T=)
8g.100920679A>GCA4829775YWHAZc.*14T>C (n.*14T>C)
c.407T>C (n.407T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920680G>ACA584007069YWHAZc.*13C>T (n.*13C>T)
c.406C>T (n.406C>T)
dbSNP gnomAD v2 gnomAD v4
8g.100920680G=CA1806089001YWHAZc.*13C= (n.*13C=)
c.406C= (n.406C=)
8g.100920680G>TCA2688116764YWHAZc.*13C>A (n.*13C>A)
c.406C>A (n.406C>A)
gnomAD v4
8g.100920681T>CCA652591742YWHAZc.*12A>G (n.*12A>G)
c.405A>G (n.405A>G)
COSMIC
8g.100920681T>GCA1806089003YWHAZc.*12A>C (n.*12A>C)
c.405A>C (n.405A>C)
dbSNP
8g.100920681T=CA1806089002YWHAZc.*12A= (n.*12A=)
c.405A= (n.405A=)
8g.100920684G>CCA4829776YWHAZc.*9C>G (n.*9C>G)
c.402C>G (n.402C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920684G=CA1806089004YWHAZc.*9C= (n.*9C=)
c.402C= (n.402C=)
8g.100920686A>CCA2688116765YWHAZc.*7T>G (n.*7T>G)
c.400T>G (n.400T>G)
gnomAD v4
8g.100920687G>ACA584007070YWHAZc.*6C>T (n.*6C>T)
c.399C>T (n.399C>T)
dbSNP gnomAD v2 gnomAD v4
8g.100920687G=CA1806089005YWHAZc.*6C= (n.*6C=)
c.399C= (n.399C=)
8g.100920688G>ACA1806089007YWHAZc.*5C>T (n.*5C>T)
c.398C>T (n.398C>T)
dbSNP
8g.100920688G>CCA2579219755YWHAZc.*5C>G (n.*5C>G)
c.398C>G (n.398C>G)
8g.100920688G=CA1806089006YWHAZc.*5C= (n.*5C=)
c.398C= (n.398C=)
8g.100920688G>TCA4829777YWHAZc.*5C>A (n.*5C>A)
c.398C>A (n.398C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920689C>GCA2579219756YWHAZc.*4G>C (n.*4G>C)
c.397G>C (n.397G>C)
gnomAD v4
8g.100920689C>TCA2688116766YWHAZc.*4G>A (n.*4G>A)
c.397G>A (n.397G>A)
gnomAD v4
8g.100920690C>ACA2539587534YWHAZc.*3G>T (n.*3G>T)
c.396G>T (n.396G>T)
8g.100920690C=CA1806089008YWHAZc.*3G= (n.*3G=)
c.396G= (n.396G=)
8g.100920690C>TCA4829778YWHAZc.*3G>A (n.*3G>A)
c.396G>A (n.396G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920691G>ACA182492504YWHAZc.*2C>T (n.*2C>T)
c.395C>T (n.395C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920691G>CCA1806089010YWHAZc.*2C>G (n.*2C>G)
c.395C>G (n.395C>G)
dbSNP
8g.100920691G=CA1806089009YWHAZc.*2C= (n.*2C=)
c.395C= (n.395C=)
8g.100920693T>ACA371640246YWHAZc.738A>T (p.Ter246Tyr)
c.507A>T (p.Ter169Tyr)
c.378A>T (p.Ter126Tyr)
c.513A>T (p.Ter171Tyr)
c.393A>T (p.Ter131Tyr)
8g.100920693T>CCA462194468YWHAZc.738A>G (p.Ter246=)
c.507A>G (p.Ter169=)
c.378A>G (p.Ter126=)
c.513A>G (p.Ter171=)
c.393A>G (p.Ter131=)
8g.100920693T>GCA371640247YWHAZc.738A>C (p.Ter246Tyr)
c.507A>C (p.Ter169Tyr)
c.378A>C (p.Ter126Tyr)
c.513A>C (p.Ter171Tyr)
c.393A>C (p.Ter131Tyr)
8g.100920694T>ACA371640249YWHAZc.737A>T (p.Ter246Leu)
c.506A>T (p.Ter169Leu)
c.377A>T (p.Ter126Leu)
c.512A>T (p.Ter171Leu)
c.392A>T (p.Ter131Leu)
8g.100920694T>CCA462194469YWHAZc.737A>G (p.Ter246=)
c.506A>G (p.Ter169=)
c.377A>G (p.Ter126=)
c.512A>G (p.Ter171=)
c.392A>G (p.Ter131=)
COSMIC
8g.100920694T>GCA371640248YWHAZc.737A>C (p.Ter246Ser)
c.506A>C (p.Ter169Ser)
c.377A>C (p.Ter126Ser)
c.512A>C (p.Ter171Ser)
c.392A>C (p.Ter131Ser)
8g.100920695A>CCA371640250YWHAZc.736T>G (p.Ter246Glu)
c.505T>G (p.Ter169Glu)
c.376T>G (p.Ter126Glu)
c.511T>G (p.Ter171Glu)
c.391T>G (p.Ter131Glu)
8g.100920695A>GCA371640251YWHAZc.736T>C (p.Ter246Gln)
c.505T>C (p.Ter169Gln)
c.376T>C (p.Ter126Gln)
c.511T>C (p.Ter171Gln)
c.391T>C (p.Ter131Gln)
8g.100920695A>TCA371640252YWHAZc.736T>A (p.Ter246Lys)
c.505T>A (p.Ter169Lys)
c.376T>A (p.Ter126Lys)
c.511T>A (p.Ter171Lys)
c.391T>A (p.Ter131Lys)
8g.100920696A>CCA371640253YWHAZc.735T>G (p.Asn245Lys)
c.504T>G (p.Asn168Lys)
c.375T>G (p.Asn125Lys)
c.510T>G (p.Asn170Lys)
c.390T>G (p.Asn130Lys)
8g.100920696A>GCA462194470YWHAZc.735T>C (p.Asn245=)
c.504T>C (p.Asn168=)
c.375T>C (p.Asn125=)
c.510T>C (p.Asn170=)
c.390T>C (p.Asn130=)
8g.100920696A>TCA371640254YWHAZc.735T>A (p.Asn245Lys)
c.504T>A (p.Asn168Lys)
c.375T>A (p.Asn125Lys)
c.510T>A (p.Asn170Lys)
c.390T>A (p.Asn130Lys)
8g.100920697T>ACA371640255YWHAZc.734A>T (p.Asn245Ile)
c.503A>T (p.Asn168Ile)
c.374A>T (p.Asn125Ile)
c.509A>T (p.Asn170Ile)
c.389A>T (p.Asn130Ile)
8g.100920697T>CCA371640256YWHAZc.734A>G (p.Asn245Ser)
c.503A>G (p.Asn168Ser)
c.374A>G (p.Asn125Ser)
c.509A>G (p.Asn170Ser)
c.389A>G (p.Asn130Ser)
8g.100920697T>GCA371640257YWHAZc.734A>C (p.Asn245Thr)
c.503A>C (p.Asn168Thr)
c.374A>C (p.Asn125Thr)
c.509A>C (p.Asn170Thr)
c.389A>C (p.Asn130Thr)
8g.100920698T>ACA371640258YWHAZc.733A>T (p.Asn245Tyr)
c.502A>T (p.Asn168Tyr)
c.373A>T (p.Asn125Tyr)
c.508A>T (p.Asn170Tyr)
c.388A>T (p.Asn130Tyr)
gnomAD v4
8g.100920698T>CCA371640259YWHAZc.733A>G (p.Asn245Asp)
c.502A>G (p.Asn168Asp)
c.373A>G (p.Asn125Asp)
c.508A>G (p.Asn170Asp)
c.388A>G (p.Asn130Asp)
dbSNP gnomAD v2 gnomAD v4
8g.100920698T>GCA371640260YWHAZc.733A>C (p.Asn245His)
c.502A>C (p.Asn168His)
c.373A>C (p.Asn125His)
c.508A>C (p.Asn170His)
c.388A>C (p.Asn130His)
8g.100920698T=CA1806089011YWHAZc.733A= (p.Asn245=)
c.502A= (p.Asn168=)
c.373A= (p.Asn125=)
c.508A= (p.Asn170=)
c.388A= (p.Asn130=)
8g.100920699T>ACA371640261YWHAZc.732A>T (p.Glu244Asp)
c.501A>T (p.Glu167Asp)
c.372A>T (p.Glu124Asp)
c.507A>T (p.Glu169Asp)
c.387A>T (p.Glu129Asp)
8g.100920699T>CCA462194471YWHAZc.732A>G (p.Glu244=)
c.501A>G (p.Glu167=)
c.372A>G (p.Glu124=)
c.507A>G (p.Glu169=)
c.387A>G (p.Glu129=)
dbSNP gnomAD v3 gnomAD v4
8g.100920699T>GCA371640262YWHAZc.732A>C (p.Glu244Asp)
c.501A>C (p.Glu167Asp)
c.372A>C (p.Glu124Asp)
c.507A>C (p.Glu169Asp)
c.387A>C (p.Glu129Asp)
8g.100920699T=CA1806089012YWHAZc.732A= (p.Glu244=)
c.501A= (p.Glu167=)
c.372A= (p.Glu124=)
c.507A= (p.Glu169=)
c.387A= (p.Glu129=)
8g.100920700T>ACA371640265YWHAZc.731A>T (p.Glu244Val)
c.500A>T (p.Glu167Val)
c.371A>T (p.Glu124Val)
c.506A>T (p.Glu169Val)
c.386A>T (p.Glu129Val)
8g.100920700T>CCA371640263YWHAZc.731A>G (p.Glu244Gly)
c.500A>G (p.Glu167Gly)
c.371A>G (p.Glu124Gly)
c.506A>G (p.Glu169Gly)
c.386A>G (p.Glu129Gly)
dbSNP
8g.100920700T>GCA371640264YWHAZc.731A>C (p.Glu244Ala)
c.500A>C (p.Glu167Ala)
c.371A>C (p.Glu124Ala)
c.506A>C (p.Glu169Ala)
c.386A>C (p.Glu129Ala)
8g.100920700T=CA1806089013YWHAZc.731A= (p.Glu244=)
c.500A= (p.Glu167=)
c.371A= (p.Glu124=)
c.506A= (p.Glu169=)
c.386A= (p.Glu129=)
8g.100920701C>ACA371640266YWHAZc.730G>T (p.Glu244Ter)
c.499G>T (p.Glu167Ter)
c.370G>T (p.Glu124Ter)
c.505G>T (p.Glu169Ter)
c.385G>T (p.Glu129Ter)
COSMIC
8g.100920701C>GCA371640267YWHAZc.730G>C (p.Glu244Gln)
c.499G>C (p.Glu167Gln)
c.370G>C (p.Glu124Gln)
c.505G>C (p.Glu169Gln)
c.385G>C (p.Glu129Gln)
8g.100920701C>TCA371640268YWHAZc.730G>A (p.Glu244Lys)
c.499G>A (p.Glu167Lys)
c.370G>A (p.Glu124Lys)
c.505G>A (p.Glu169Lys)
c.385G>A (p.Glu129Lys)
8g.100920701_100920702insGCA462194472YWHAZc.729_730insC (p.Glu244ArgfsTer19)
c.498_499insC (p.Glu167ArgfsTer19)
c.369_370insC (p.Glu124ArgfsTer19)
c.504_505insC (p.Glu169ArgfsTer19)
c.384_385insC (p.Glu129ArgfsTer19)
8g.100920702C>ACA462194473YWHAZc.729G>T (p.Gly243=)
c.498G>T (p.Gly166=)
c.369G>T (p.Gly123=)
c.504G>T (p.Gly168=)
c.384G>T (p.Gly128=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920702C=CA1806089014YWHAZc.729G= (p.Gly243=)
c.498G= (p.Gly166=)
c.369G= (p.Gly123=)
c.504G= (p.Gly168=)
c.384G= (p.Gly128=)
8g.100920702C>GCA462194474YWHAZc.729G>C (p.Gly243=)
c.498G>C (p.Gly166=)
c.369G>C (p.Gly123=)
c.504G>C (p.Gly168=)
c.384G>C (p.Gly128=)
8g.100920702C>TCA462194475YWHAZc.729G>A (p.Gly243=)
c.498G>A (p.Gly166=)
c.369G>A (p.Gly123=)
c.504G>A (p.Gly168=)
c.384G>A (p.Gly128=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920703C>ACA371640269YWHAZc.728G>T (p.Gly243Val)
c.497G>T (p.Gly166Val)
c.368G>T (p.Gly123Val)
c.503G>T (p.Gly168Val)
c.383G>T (p.Gly128Val)
8g.100920703C>GCA371640270YWHAZc.728G>C (p.Gly243Ala)
c.497G>C (p.Gly166Ala)
c.368G>C (p.Gly123Ala)
c.503G>C (p.Gly168Ala)
c.383G>C (p.Gly128Ala)
8g.100920703C>TCA371640271YWHAZc.728G>A (p.Gly243Glu)
c.497G>A (p.Gly166Glu)
c.368G>A (p.Gly123Glu)
c.503G>A (p.Gly168Glu)
c.383G>A (p.Gly128Glu)
8g.100920704C>ACA371640272YWHAZc.727G>T (p.Gly243Trp)
c.496G>T (p.Gly166Trp)
c.367G>T (p.Gly123Trp)
c.502G>T (p.Gly168Trp)
c.382G>T (p.Gly128Trp)
8g.100920704C>GCA371640273YWHAZc.727G>C (p.Gly243Arg)
c.496G>C (p.Gly166Arg)
c.367G>C (p.Gly123Arg)
c.502G>C (p.Gly168Arg)
c.382G>C (p.Gly128Arg)
8g.100920704C>TCA371640274YWHAZc.727G>A (p.Gly243Arg)
c.496G>A (p.Gly166Arg)
c.367G>A (p.Gly123Arg)
c.502G>A (p.Gly168Arg)
c.382G>A (p.Gly128Arg)
8g.100920705T>ACA462194476YWHAZc.726A>T (p.Gly242=)
c.495A>T (p.Gly165=)
c.366A>T (p.Gly122=)
c.501A>T (p.Gly167=)
c.381A>T (p.Gly127=)
8g.100920705T>CCA462194477YWHAZc.726A>G (p.Gly242=)
c.495A>G (p.Gly165=)
c.366A>G (p.Gly122=)
c.501A>G (p.Gly167=)
c.381A>G (p.Gly127=)
dbSNP
8g.100920705T>GCA462194478YWHAZc.726A>C (p.Gly242=)
c.495A>C (p.Gly165=)
c.366A>C (p.Gly122=)
c.501A>C (p.Gly167=)
c.381A>C (p.Gly127=)
8g.100920706C>ACA371640275YWHAZc.725G>T (p.Gly242Val)
c.494G>T (p.Gly165Val)
c.365G>T (p.Gly122Val)
c.500G>T (p.Gly167Val)
c.380G>T (p.Gly127Val)
8g.100920706C=CA1806089016YWHAZc.725G= (p.Gly242=)
c.494G= (p.Gly165=)
c.365G= (p.Gly122=)
c.500G= (p.Gly167=)
c.380G= (p.Gly127=)
8g.100920706C>GCA371640276YWHAZc.725G>C (p.Gly242Ala)
c.494G>C (p.Gly165Ala)
c.365G>C (p.Gly122Ala)
c.500G>C (p.Gly167Ala)
c.380G>C (p.Gly127Ala)
COSMIC
8g.100920706C>TCA371640277YWHAZc.725G>A (p.Gly242Glu)
c.494G>A (p.Gly165Glu)
c.365G>A (p.Gly122Glu)
c.500G>A (p.Gly167Glu)
c.380G>A (p.Gly127Glu)
dbSNP gnomAD v2 gnomAD v4
8g.100920706_100920709delinsCCTTCA1806089015YWHAZc.722_725delinsAAGG (p.Glu241=)
c.491_494delinsAAGG (p.Glu164=)
c.362_365delinsAAGG (p.Glu121=)
c.497_500delinsAAGG (p.Glu166=)
c.377_380delinsAAGG (p.Glu126=)
8g.100920707C>ACA371640279YWHAZc.724G>T (p.Gly242Ter)
c.493G>T (p.Gly165Ter)
c.364G>T (p.Gly122Ter)
c.499G>T (p.Gly167Ter)
c.379G>T (p.Gly127Ter)
8g.100920707C>GCA371640280YWHAZc.724G>C (p.Gly242Arg)
c.493G>C (p.Gly165Arg)
c.364G>C (p.Gly122Arg)
c.499G>C (p.Gly167Arg)
c.379G>C (p.Gly127Arg)
8g.100920707C>TCA371640278YWHAZc.724G>A (p.Gly242Arg)
c.493G>A (p.Gly165Arg)
c.364G>A (p.Gly122Arg)
c.499G>A (p.Gly167Arg)
c.379G>A (p.Gly127Arg)
8g.100920709_100920711delCA584007071YWHAZc.722_724del (p.Glu241del)
c.491_493del (p.Glu164del)
c.362_364del (p.Glu121del)
c.497_499del (p.Glu166del)
c.377_379del (p.Glu126del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920708T>ACA371640282YWHAZc.723A>T (p.Glu241Asp)
c.492A>T (p.Glu164Asp)
c.363A>T (p.Glu121Asp)
c.498A>T (p.Glu166Asp)
c.378A>T (p.Glu126Asp)
8g.100920708T>CCA462194479YWHAZc.723A>G (p.Glu241=)
c.492A>G (p.Glu164=)
c.363A>G (p.Glu121=)
c.498A>G (p.Glu166=)
c.378A>G (p.Glu126=)
8g.100920708T>GCA371640281YWHAZc.723A>C (p.Glu241Asp)
c.492A>C (p.Glu164Asp)
c.363A>C (p.Glu121Asp)
c.498A>C (p.Glu166Asp)
c.378A>C (p.Glu126Asp)
8g.100920709T>ACA371640283YWHAZc.722A>T (p.Glu241Val)
c.491A>T (p.Glu164Val)
c.362A>T (p.Glu121Val)
c.497A>T (p.Glu166Val)
c.377A>T (p.Glu126Val)
8g.100920709T>CCA371640284YWHAZc.722A>G (p.Glu241Gly)
c.491A>G (p.Glu164Gly)
c.362A>G (p.Glu121Gly)
c.497A>G (p.Glu166Gly)
c.377A>G (p.Glu126Gly)
dbSNP gnomAD v3 gnomAD v4
8g.100920709T>GCA371640285YWHAZc.722A>C (p.Glu241Ala)
c.491A>C (p.Glu164Ala)
c.362A>C (p.Glu121Ala)
c.497A>C (p.Glu166Ala)
c.377A>C (p.Glu126Ala)
8g.100920709T=CA1806089018YWHAZc.722A= (p.Glu241=)
c.491A= (p.Glu164=)
c.362A= (p.Glu121=)
c.497A= (p.Glu166=)
c.377A= (p.Glu126=)
8g.100920709_100920712delinsTCTCCA1806089017YWHAZc.719_722delinsGAGA (p.Gly240=)
c.488_491delinsGAGA (p.Gly163=)
c.359_362delinsGAGA (p.Gly120=)
c.494_497delinsGAGA (p.Gly165=)
c.374_377delinsGAGA (p.Gly125=)
8g.100920710C>ACA371640286YWHAZc.721G>T (p.Glu241Ter)
c.490G>T (p.Glu164Ter)
c.361G>T (p.Glu121Ter)
c.496G>T (p.Glu166Ter)
c.376G>T (p.Glu126Ter)
8g.100920710C>GCA371640287YWHAZc.721G>C (p.Glu241Gln)
c.490G>C (p.Glu164Gln)
c.361G>C (p.Glu121Gln)
c.496G>C (p.Glu166Gln)
c.376G>C (p.Glu126Gln)
8g.100920710C>TCA371640288YWHAZc.721G>A (p.Glu241Lys)
c.490G>A (p.Glu164Lys)
c.361G>A (p.Glu121Lys)
c.496G>A (p.Glu166Lys)
c.376G>A (p.Glu126Lys)
8g.100920712_100920714delCA4829779YWHAZc.719_721del (p.Gly240del)
c.488_490del (p.Gly163del)
c.359_361del (p.Gly120del)
c.494_496del (p.Gly165del)
c.374_376del (p.Gly125del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920711T>ACA462194480YWHAZc.720A>T (p.Gly240=)
c.489A>T (p.Gly163=)
c.360A>T (p.Gly120=)
c.495A>T (p.Gly165=)
c.375A>T (p.Gly125=)
8g.100920711T>CCA462194481YWHAZc.720A>G (p.Gly240=)
c.489A>G (p.Gly163=)
c.360A>G (p.Gly120=)
c.495A>G (p.Gly165=)
c.375A>G (p.Gly125=)
dbSNP
8g.100920711T>GCA462194482YWHAZc.720A>C (p.Gly240=)
c.489A>C (p.Gly163=)
c.360A>C (p.Gly120=)
c.495A>C (p.Gly165=)
c.375A>C (p.Gly125=)
8g.100920711T=CA1806089019YWHAZc.720A= (p.Gly240=)
c.489A= (p.Gly163=)
c.360A= (p.Gly120=)
c.495A= (p.Gly165=)
c.375A= (p.Gly125=)
8g.100920712C>ACA371640289YWHAZc.719G>T (p.Gly240Val)
c.488G>T (p.Gly163Val)
c.359G>T (p.Gly120Val)
c.494G>T (p.Gly165Val)
c.374G>T (p.Gly125Val)
8g.100920712C=CA1806089020YWHAZc.719G= (p.Gly240=)
c.488G= (p.Gly163=)
c.359G= (p.Gly120=)
c.494G= (p.Gly165=)
c.374G= (p.Gly125=)
8g.100920712C>GCA371640290YWHAZc.719G>C (p.Gly240Ala)
c.488G>C (p.Gly163Ala)
c.359G>C (p.Gly120Ala)
c.494G>C (p.Gly165Ala)
c.374G>C (p.Gly125Ala)
dbSNP gnomAD v3 gnomAD v4
8g.100920712C>TCA371640291YWHAZc.719G>A (p.Gly240Glu)
c.488G>A (p.Gly163Glu)
c.359G>A (p.Gly120Glu)
c.494G>A (p.Gly165Glu)
c.374G>A (p.Gly125Glu)
8g.100920713C>ACA371640294YWHAZc.718G>T (p.Gly240Ter)
c.487G>T (p.Gly163Ter)
c.358G>T (p.Gly120Ter)
c.493G>T (p.Gly165Ter)
c.373G>T (p.Gly125Ter)
8g.100920713C>GCA371640292YWHAZc.718G>C (p.Gly240Arg)
c.487G>C (p.Gly163Arg)
c.358G>C (p.Gly120Arg)
c.493G>C (p.Gly165Arg)
c.373G>C (p.Gly125Arg)
8g.100920713C>TCA371640293YWHAZc.718G>A (p.Gly240Arg)
c.487G>A (p.Gly163Arg)
c.358G>A (p.Gly120Arg)
c.493G>A (p.Gly165Arg)
c.373G>A (p.Gly125Arg)
8g.100920714T>ACA462194483YWHAZc.717A>T (p.Ala239=)
c.486A>T (p.Ala162=)
c.357A>T (p.Ala119=)
c.492A>T (p.Ala164=)
c.372A>T (p.Ala124=)
8g.100920714T>CCA4829780YWHAZc.717A>G (p.Ala239=)
c.486A>G (p.Ala162=)
c.357A>G (p.Ala119=)
c.492A>G (p.Ala164=)
c.372A>G (p.Ala124=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920714T>GCA462194484YWHAZc.717A>C (p.Ala239=)
c.486A>C (p.Ala162=)
c.357A>C (p.Ala119=)
c.492A>C (p.Ala164=)
c.372A>C (p.Ala124=)
8g.100920714T=CA1806089021YWHAZc.717A= (p.Ala239=)
c.486A= (p.Ala162=)
c.357A= (p.Ala119=)
c.492A= (p.Ala164=)
c.372A= (p.Ala124=)
8g.100920714_100920720delinsTGCTTCACA1806089022YWHAZc.711_717delinsTGAAGCA (p.Ala237=)
c.480_486delinsTGAAGCA (p.Ala160=)
c.351_357delinsTGAAGCA (p.Ala117=)
c.486_492delinsTGAAGCA (p.Ala162=)
c.366_372delinsTGAAGCA (p.Ala122=)
8g.100920715G>ACA371640295YWHAZc.716C>T (p.Ala239Val)
c.485C>T (p.Ala162Val)
c.356C>T (p.Ala119Val)
c.491C>T (p.Ala164Val)
c.371C>T (p.Ala124Val)
8g.100920715G>CCA371640296YWHAZc.716C>G (p.Ala239Gly)
c.485C>G (p.Ala162Gly)
c.356C>G (p.Ala119Gly)
c.491C>G (p.Ala164Gly)
c.371C>G (p.Ala124Gly)
8g.100920715G>TCA371640297YWHAZc.716C>A (p.Ala239Glu)
c.485C>A (p.Ala162Glu)
c.356C>A (p.Ala119Glu)
c.491C>A (p.Ala164Glu)
c.371C>A (p.Ala124Glu)
8g.100920720_100920725delCA584007072YWHAZc.711_716del (p.Glu238_Ala239del)
c.480_485del (p.Glu161_Ala162del)
c.351_356del (p.Glu118_Ala119del)
c.486_491del (p.Glu163_Ala164del)
c.366_371del (p.Glu123_Ala124del)
dbSNP gnomAD v2
8g.100920716C>ACA371640298YWHAZc.715G>T (p.Ala239Ser)
c.484G>T (p.Ala162Ser)
c.355G>T (p.Ala119Ser)
c.739G>T
c.490G>T (p.Ala164Ser)
c.370G>T (p.Ala124Ser)
8g.100920716C=CA1806089023YWHAZc.715G= (p.Ala239=)
c.484G= (p.Ala162=)
c.355G= (p.Ala119=)
c.739G=
c.490G= (p.Ala164=)
c.370G= (p.Ala124=)
8g.100920716C>GCA371640299YWHAZc.715G>C (p.Ala239Pro)
c.484G>C (p.Ala162Pro)
c.355G>C (p.Ala119Pro)
c.739G>C
c.490G>C (p.Ala164Pro)
c.370G>C (p.Ala124Pro)
8g.100920716C>TCA4829781YWHAZc.715G>A (p.Ala239Thr)
c.484G>A (p.Ala162Thr)
c.355G>A (p.Ala119Thr)
c.739G>A
c.490G>A (p.Ala164Thr)
c.370G>A (p.Ala124Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920717T>ACA371640300YWHAZc.714A>T (p.Glu238Asp)
c.483A>T (p.Glu161Asp)
c.354A>T (p.Glu118Asp)
c.738A>T (p.Glu246Asp)
c.489A>T (p.Glu163Asp)
c.369A>T (p.Glu123Asp)
8g.100920717T>CCA462194485YWHAZc.714A>G (p.Glu238=)
c.483A>G (p.Glu161=)
c.354A>G (p.Glu118=)
c.738A>G (p.Glu246=)
c.489A>G (p.Glu163=)
c.369A>G (p.Glu123=)
8g.100920717T>GCA371640301YWHAZc.714A>C (p.Glu238Asp)
c.483A>C (p.Glu161Asp)
c.354A>C (p.Glu118Asp)
c.738A>C (p.Glu246Asp)
c.489A>C (p.Glu163Asp)
c.369A>C (p.Glu123Asp)
8g.100920718T>ACA371640302YWHAZc.713A>T (p.Glu238Val)
c.482A>T (p.Glu161Val)
c.353A>T (p.Glu118Val)
c.737A>T (p.Glu246Val)
c.488A>T (p.Glu163Val)
c.368A>T (p.Glu123Val)
8g.100920718T>CCA371640303YWHAZc.713A>G (p.Glu238Gly)
c.482A>G (p.Glu161Gly)
c.353A>G (p.Glu118Gly)
c.737A>G (p.Glu246Gly)
c.488A>G (p.Glu163Gly)
c.368A>G (p.Glu123Gly)
8g.100920718T>GCA371640304YWHAZc.713A>C (p.Glu238Ala)
c.482A>C (p.Glu161Ala)
c.353A>C (p.Glu118Ala)
c.737A>C (p.Glu246Ala)
c.488A>C (p.Glu163Ala)
c.368A>C (p.Glu123Ala)
8g.100920719C>ACA371640306YWHAZc.712G>T (p.Glu238Ter)
c.481G>T (p.Glu161Ter)
c.352G>T (p.Glu118Ter)
c.736G>T (p.Glu246Ter)
c.487G>T (p.Glu163Ter)
c.367G>T (p.Glu123Ter)
8g.100920719C>GCA371640307YWHAZc.712G>C (p.Glu238Gln)
c.481G>C (p.Glu161Gln)
c.352G>C (p.Glu118Gln)
c.736G>C (p.Glu246Gln)
c.487G>C (p.Glu163Gln)
c.367G>C (p.Glu123Gln)
8g.100920719C>TCA371640305YWHAZc.712G>A (p.Glu238Lys)
c.481G>A (p.Glu161Lys)
c.352G>A (p.Glu118Lys)
c.736G>A (p.Glu246Lys)
c.487G>A (p.Glu163Lys)
c.367G>A (p.Glu123Lys)
8g.100920720A=CA1806089024YWHAZc.711T= (p.Ala237=)
c.480T= (p.Ala160=)
c.351T= (p.Ala117=)
c.735T= (p.Ala245=)
c.486T= (p.Ala162=)
c.366T= (p.Ala122=)
8g.100920720A>CCA462194486YWHAZc.711T>G (p.Ala237=)
c.480T>G (p.Ala160=)
c.351T>G (p.Ala117=)
c.735T>G (p.Ala245=)
c.486T>G (p.Ala162=)
c.366T>G (p.Ala122=)
8g.100920720A>GCA462194487YWHAZc.711T>C (p.Ala237=)
c.480T>C (p.Ala160=)
c.351T>C (p.Ala117=)
c.735T>C (p.Ala245=)
c.486T>C (p.Ala162=)
c.366T>C (p.Ala122=)
dbSNP gnomAD v4
8g.100920720A>TCA462194488YWHAZc.711T>A (p.Ala237=)
c.480T>A (p.Ala160=)
c.351T>A (p.Ala117=)
c.735T>A (p.Ala245=)
c.486T>A (p.Ala162=)
c.366T>A (p.Ala122=)
8g.100920721G>ACA371640308YWHAZc.710C>T (p.Ala237Val)
c.479C>T (p.Ala160Val)
c.350C>T (p.Ala117Val)
c.734C>T (p.Ala245Val)
c.485C>T (p.Ala162Val)
c.365C>T (p.Ala122Val)
8g.100920721G>CCA371640309YWHAZc.710C>G (p.Ala237Gly)
c.479C>G (p.Ala160Gly)
c.350C>G (p.Ala117Gly)
c.734C>G (p.Ala245Gly)
c.485C>G (p.Ala162Gly)
c.365C>G (p.Ala122Gly)
8g.100920721G>TCA371640310YWHAZc.710C>A (p.Ala237Asp)
c.479C>A (p.Ala160Asp)
c.350C>A (p.Ala117Asp)
c.734C>A (p.Ala245Asp)
c.485C>A (p.Ala162Asp)
c.365C>A (p.Ala122Asp)
8g.100920722C>ACA371640311YWHAZc.709G>T (p.Ala237Ser)
c.478G>T (p.Ala160Ser)
c.349G>T (p.Ala117Ser)
c.733G>T (p.Ala245Ser)
c.484G>T (p.Ala162Ser)
c.364G>T (p.Ala122Ser)
8g.100920722C=CA1806089025YWHAZc.709G= (p.Ala237=)
c.478G= (p.Ala160=)
c.349G= (p.Ala117=)
c.733G= (p.Ala245=)
c.484G= (p.Ala162=)
c.364G= (p.Ala122=)
8g.100920722C>GCA371640312YWHAZc.709G>C (p.Ala237Pro)
c.478G>C (p.Ala160Pro)
c.349G>C (p.Ala117Pro)
c.733G>C (p.Ala245Pro)
c.484G>C (p.Ala162Pro)
c.364G>C (p.Ala122Pro)
8g.100920722C>TCA4829782YWHAZc.709G>A (p.Ala237Thr)
c.478G>A (p.Ala160Thr)
c.349G>A (p.Ala117Thr)
c.733G>A (p.Ala245Thr)
c.484G>A (p.Ala162Thr)
c.364G>A (p.Ala122Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920723T>ACA371640314YWHAZc.708A>T (p.Glu236Asp)
c.477A>T (p.Glu159Asp)
c.348A>T (p.Glu116Asp)
c.732A>T (p.Glu244Asp)
c.483A>T (p.Glu161Asp)
c.363A>T (p.Glu121Asp)
8g.100920723T>CCA462194489YWHAZc.708A>G (p.Glu236=)
c.477A>G (p.Glu159=)
c.348A>G (p.Glu116=)
c.732A>G (p.Glu244=)
c.483A>G (p.Glu161=)
c.363A>G (p.Glu121=)
8g.100920723T>GCA371640313YWHAZc.708A>C (p.Glu236Asp)
c.477A>C (p.Glu159Asp)
c.348A>C (p.Glu116Asp)
c.732A>C (p.Glu244Asp)
c.483A>C (p.Glu161Asp)
c.363A>C (p.Glu121Asp)
8g.100920724T>ACA371640315YWHAZc.707A>T (p.Glu236Val)
c.476A>T (p.Glu159Val)
c.347A>T (p.Glu116Val)
c.731A>T (p.Glu244Val)
c.482A>T (p.Glu161Val)
c.362A>T (p.Glu121Val)
8g.100920724T>CCA371640316YWHAZc.707A>G (p.Glu236Gly)
c.476A>G (p.Glu159Gly)
c.347A>G (p.Glu116Gly)
c.731A>G (p.Glu244Gly)
c.482A>G (p.Glu161Gly)
c.362A>G (p.Glu121Gly)
8g.100920724T>GCA371640317YWHAZc.707A>C (p.Glu236Ala)
c.476A>C (p.Glu159Ala)
c.347A>C (p.Glu116Ala)
c.731A>C (p.Glu244Ala)
c.482A>C (p.Glu161Ala)
c.362A>C (p.Glu121Ala)
8g.100920725C>ACA371640318YWHAZc.706G>T (p.Glu236Ter)
c.475G>T (p.Glu159Ter)
c.346G>T (p.Glu116Ter)
c.730G>T (p.Glu244Ter)
c.481G>T (p.Glu161Ter)
c.361G>T (p.Glu121Ter)
8g.100920725C=CA1806089026YWHAZc.706G= (p.Glu236=)
c.475G= (p.Glu159=)
c.346G= (p.Glu116=)
c.730G= (p.Glu244=)
c.481G= (p.Glu161=)
c.361G= (p.Glu121=)
8g.100920725C>GCA371640319YWHAZc.706G>C (p.Glu236Gln)
c.475G>C (p.Glu159Gln)
c.346G>C (p.Glu116Gln)
c.730G>C (p.Glu244Gln)
c.481G>C (p.Glu161Gln)
c.361G>C (p.Glu121Gln)
8g.100920725C>TCA371640320YWHAZc.706G>A (p.Glu236Lys)
c.475G>A (p.Glu159Lys)
c.346G>A (p.Glu116Lys)
c.730G>A (p.Glu244Lys)
c.481G>A (p.Glu161Lys)
c.361G>A (p.Glu121Lys)
dbSNP gnomAD v4
8g.100920726G>ACA4829783YWHAZc.705C>T (p.Asp235=)
c.474C>T (p.Asp158=)
c.345C>T (p.Asp115=)
c.729C>T (p.Asp243=)
c.480C>T (p.Asp160=)
c.360C>T (p.Asp120=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920726G>CCA371640322YWHAZc.705C>G (p.Asp235Glu)
c.474C>G (p.Asp158Glu)
c.345C>G (p.Asp115Glu)
c.729C>G (p.Asp243Glu)
c.480C>G (p.Asp160Glu)
c.360C>G (p.Asp120Glu)
8g.100920726G=CA1806089027YWHAZc.705C= (p.Asp235=)
c.474C= (p.Asp158=)
c.345C= (p.Asp115=)
c.729C= (p.Asp243=)
c.480C= (p.Asp160=)
c.360C= (p.Asp120=)
8g.100920726G>TCA371640321YWHAZc.705C>A (p.Asp235Glu)
c.474C>A (p.Asp158Glu)
c.345C>A (p.Asp115Glu)
c.729C>A (p.Asp243Glu)
c.480C>A (p.Asp160Glu)
c.360C>A (p.Asp120Glu)
8g.100920727T>ACA371640323YWHAZc.704A>T (p.Asp235Val)
c.473A>T (p.Asp158Val)
c.344A>T (p.Asp115Val)
c.728A>T (p.Asp243Val)
c.479A>T (p.Asp160Val)
c.359A>T (p.Asp120Val)
gnomAD v4
8g.100920727T>CCA371640324YWHAZc.704A>G (p.Asp235Gly)
c.473A>G (p.Asp158Gly)
c.344A>G (p.Asp115Gly)
c.728A>G (p.Asp243Gly)
c.479A>G (p.Asp160Gly)
c.359A>G (p.Asp120Gly)
8g.100920727T>GCA371640325YWHAZc.704A>C (p.Asp235Ala)
c.473A>C (p.Asp158Ala)
c.344A>C (p.Asp115Ala)
c.728A>C (p.Asp243Ala)
c.479A>C (p.Asp160Ala)
c.359A>C (p.Asp120Ala)
8g.100920728C>ACA371640326YWHAZc.703G>T (p.Asp235Tyr)
c.472G>T (p.Asp158Tyr)
c.343G>T (p.Asp115Tyr)
c.727G>T (p.Asp243Tyr)
c.478G>T (p.Asp160Tyr)
c.358G>T (p.Asp120Tyr)
8g.100920728C=CA1806089028YWHAZc.703G= (p.Asp235=)
c.472G= (p.Asp158=)
c.343G= (p.Asp115=)
c.727G= (p.Asp243=)
c.478G= (p.Asp160=)
c.358G= (p.Asp120=)
8g.100920728C>GCA371640327YWHAZc.703G>C (p.Asp235His)
c.472G>C (p.Asp158His)
c.343G>C (p.Asp115His)
c.727G>C (p.Asp243His)
c.478G>C (p.Asp160His)
c.358G>C (p.Asp120His)
8g.100920728C>TCA371640328YWHAZc.703G>A (p.Asp235Asn)
c.472G>A (p.Asp158Asn)
c.343G>A (p.Asp115Asn)
c.727G>A (p.Asp243Asn)
c.478G>A (p.Asp160Asn)
c.358G>A (p.Asp120Asn)
dbSNP
8g.100920729T>ACA462194490YWHAZc.702A>T (p.Gly234=)
c.471A>T (p.Gly157=)
c.342A>T (p.Gly114=)
c.726A>T (p.Gly242=)
c.477A>T (p.Gly159=)
c.357A>T (p.Gly119=)
8g.100920729T>CCA462194491YWHAZc.702A>G (p.Gly234=)
c.471A>G (p.Gly157=)
c.342A>G (p.Gly114=)
c.726A>G (p.Gly242=)
c.477A>G (p.Gly159=)
c.357A>G (p.Gly119=)
8g.100920729T>GCA4829784YWHAZc.702A>C (p.Gly234=)
c.471A>C (p.Gly157=)
c.342A>C (p.Gly114=)
c.726A>C (p.Gly242=)
c.477A>C (p.Gly159=)
c.357A>C (p.Gly119=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920729T=CA1806089029YWHAZc.702A= (p.Gly234=)
c.471A= (p.Gly157=)
c.342A= (p.Gly114=)
c.726A= (p.Gly242=)
c.477A= (p.Gly159=)
c.357A= (p.Gly119=)
8g.100920730C>ACA371640329YWHAZc.701G>T (p.Gly234Val)
c.470G>T (p.Gly157Val)
c.341G>T (p.Gly114Val)
c.725G>T (p.Gly242Val)
c.476G>T (p.Gly159Val)
c.356G>T (p.Gly119Val)
8g.100920730C>GCA371640330YWHAZc.701G>C (p.Gly234Ala)
c.470G>C (p.Gly157Ala)
c.341G>C (p.Gly114Ala)
c.725G>C (p.Gly242Ala)
c.476G>C (p.Gly159Ala)
c.356G>C (p.Gly119Ala)
8g.100920730C>TCA371640331YWHAZc.701G>A (p.Gly234Glu)
c.470G>A (p.Gly157Glu)
c.341G>A (p.Gly114Glu)
c.725G>A (p.Gly242Glu)
c.476G>A (p.Gly159Glu)
c.356G>A (p.Gly119Glu)
gnomAD v4
8g.100920731C>ACA371640332YWHAZc.700G>T (p.Gly234Ter)
c.469G>T (p.Gly157Ter)
c.340G>T (p.Gly114Ter)
c.724G>T (p.Gly242Ter)
c.475G>T (p.Gly159Ter)
c.355G>T (p.Gly119Ter)
8g.100920731C>GCA371640333YWHAZc.700G>C (p.Gly234Arg)
c.469G>C (p.Gly157Arg)
c.340G>C (p.Gly114Arg)
c.724G>C (p.Gly242Arg)
c.475G>C (p.Gly159Arg)
c.355G>C (p.Gly119Arg)
COSMIC
8g.100920731C>TCA371640334YWHAZc.700G>A (p.Gly234Arg)
c.469G>A (p.Gly157Arg)
c.340G>A (p.Gly114Arg)
c.724G>A (p.Gly242Arg)
c.475G>A (p.Gly159Arg)
c.355G>A (p.Gly119Arg)
8g.100920732T>ACA371640335YWHAZc.699A>T (p.Gln233His)
c.468A>T (p.Gln156His)
c.339A>T (p.Gln113His)
c.723A>T (p.Gln241His)
c.474A>T (p.Gln158His)
c.354A>T (p.Gln118His)
8g.100920732T>CCA462194492YWHAZc.699A>G (p.Gln233=)
c.468A>G (p.Gln156=)
c.339A>G (p.Gln113=)
c.723A>G (p.Gln241=)
c.474A>G (p.Gln158=)
c.354A>G (p.Gln118=)
gnomAD v4
8g.100920732T>GCA371640336YWHAZc.699A>C (p.Gln233His)
c.468A>C (p.Gln156His)
c.339A>C (p.Gln113His)
c.723A>C (p.Gln241His)
c.474A>C (p.Gln158His)
c.354A>C (p.Gln118His)
8g.100920733T>ACA371640337YWHAZc.698A>T (p.Gln233Leu)
c.467A>T (p.Gln156Leu)
c.338A>T (p.Gln113Leu)
c.722A>T (p.Gln241Leu)
c.473A>T (p.Gln158Leu)
c.353A>T (p.Gln118Leu)
8g.100920733T>CCA371640339YWHAZc.698A>G (p.Gln233Arg)
c.467A>G (p.Gln156Arg)
c.338A>G (p.Gln113Arg)
c.722A>G (p.Gln241Arg)
c.473A>G (p.Gln158Arg)
c.353A>G (p.Gln118Arg)
8g.100920733T>GCA371640338YWHAZc.698A>C (p.Gln233Pro)
c.467A>C (p.Gln156Pro)
c.338A>C (p.Gln113Pro)
c.722A>C (p.Gln241Pro)
c.473A>C (p.Gln158Pro)
c.353A>C (p.Gln118Pro)
8g.100920734G>ACA371640340YWHAZc.697C>T (p.Gln233Ter)
c.466C>T (p.Gln156Ter)
c.337C>T (p.Gln113Ter)
c.721C>T (p.Gln241Ter)
c.472C>T (p.Gln158Ter)
c.352C>T (p.Gln118Ter)
8g.100920734G>CCA371640342YWHAZc.697C>G (p.Gln233Glu)
c.466C>G (p.Gln156Glu)
c.337C>G (p.Gln113Glu)
c.721C>G (p.Gln241Glu)
c.472C>G (p.Gln158Glu)
c.352C>G (p.Gln118Glu)
gnomAD v4 COSMIC
8g.100920734G>TCA371640341YWHAZc.697C>A (p.Gln233Lys)
c.466C>A (p.Gln156Lys)
c.337C>A (p.Gln113Lys)
c.721C>A (p.Gln241Lys)
c.472C>A (p.Gln158Lys)
c.352C>A (p.Gln118Lys)
8g.100920735G>ACA462194493YWHAZc.696C>T (p.Thr232=)
c.465C>T (p.Thr155=)
c.336C>T (p.Thr112=)
c.720C>T (p.Thr240=)
c.471C>T (p.Thr157=)
c.351C>T (p.Thr117=)
dbSNP gnomAD v4
8g.100920735G>CCA462194494YWHAZc.696C>G (p.Thr232=)
c.465C>G (p.Thr155=)
c.336C>G (p.Thr112=)
c.720C>G (p.Thr240=)
c.471C>G (p.Thr157=)
c.351C>G (p.Thr117=)
8g.100920735G=CA1806089030YWHAZc.696C= (p.Thr232=)
c.465C= (p.Thr155=)
c.336C= (p.Thr112=)
c.720C= (p.Thr240=)
c.471C= (p.Thr157=)
c.351C= (p.Thr117=)
8g.100920735G>TCA462194495YWHAZc.696C>A (p.Thr232=)
c.465C>A (p.Thr155=)
c.336C>A (p.Thr112=)
c.720C>A (p.Thr240=)
c.471C>A (p.Thr157=)
c.351C>A (p.Thr117=)
8g.100920736G>ACA4829785YWHAZc.695C>T (p.Thr232Ile)
c.464C>T (p.Thr155Ile)
c.335C>T (p.Thr112Ile)
c.719C>T (p.Thr240Ile)
c.470C>T (p.Thr157Ile)
c.350C>T (p.Thr117Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920736G>CCA371640343YWHAZc.695C>G (p.Thr232Ser)
c.464C>G (p.Thr155Ser)
c.335C>G (p.Thr112Ser)
c.719C>G (p.Thr240Ser)
c.470C>G (p.Thr157Ser)
c.350C>G (p.Thr117Ser)
8g.100920736G=CA1806089031YWHAZc.695C= (p.Thr232=)
c.464C= (p.Thr155=)
c.335C= (p.Thr112=)
c.719C= (p.Thr240=)
c.470C= (p.Thr157=)
c.350C= (p.Thr117=)
8g.100920736G>TCA371640344YWHAZc.695C>A (p.Thr232Asn)
c.464C>A (p.Thr155Asn)
c.335C>A (p.Thr112Asn)
c.719C>A (p.Thr240Asn)
c.470C>A (p.Thr157Asn)
c.350C>A (p.Thr117Asn)
dbSNP gnomAD v2
8g.100920737T>ACA371640345YWHAZc.694A>T (p.Thr232Ser)
c.463A>T (p.Thr155Ser)
c.334A>T (p.Thr112Ser)
c.718A>T (p.Thr240Ser)
c.469A>T (p.Thr157Ser)
c.349A>T (p.Thr117Ser)
8g.100920737T>CCA371640346YWHAZc.694A>G (p.Thr232Ala)
c.463A>G (p.Thr155Ala)
c.334A>G (p.Thr112Ala)
c.718A>G (p.Thr240Ala)
c.469A>G (p.Thr157Ala)
c.349A>G (p.Thr117Ala)
gnomAD v4
8g.100920737T>GCA371640347YWHAZc.694A>C (p.Thr232Pro)
c.463A>C (p.Thr155Pro)
c.334A>C (p.Thr112Pro)
c.718A>C (p.Thr240Pro)
c.469A>C (p.Thr157Pro)
c.349A>C (p.Thr117Pro)
8g.100920738A>CCA371640348YWHAZc.693T>G (p.Asp231Glu)
c.462T>G (p.Asp154Glu)
c.333T>G (p.Asp111Glu)
c.717T>G (p.Asp239Glu)
c.468T>G (p.Asp156Glu)
c.348T>G (p.Asp116Glu)
8g.100920738A>GCA462194496YWHAZc.693T>C (p.Asp231=)
c.462T>C (p.Asp154=)
c.333T>C (p.Asp111=)
c.717T>C (p.Asp239=)
c.468T>C (p.Asp156=)
c.348T>C (p.Asp116=)
8g.100920738A>TCA371640349YWHAZc.693T>A (p.Asp231Glu)
c.462T>A (p.Asp154Glu)
c.333T>A (p.Asp111Glu)
c.717T>A (p.Asp239Glu)
c.468T>A (p.Asp156Glu)
c.348T>A (p.Asp116Glu)
8g.100920739T>ACA371640350YWHAZc.692A>T (p.Asp231Val)
c.461A>T (p.Asp154Val)
c.332A>T (p.Asp111Val)
c.716A>T (p.Asp239Val)
c.467A>T (p.Asp156Val)
c.347A>T (p.Asp116Val)
8g.100920739T>CCA371640351YWHAZc.692A>G (p.Asp231Gly)
c.461A>G (p.Asp154Gly)
c.332A>G (p.Asp111Gly)
c.716A>G (p.Asp239Gly)
c.467A>G (p.Asp156Gly)
c.347A>G (p.Asp116Gly)
8g.100920739T>GCA371640352YWHAZc.692A>C (p.Asp231Ala)
c.461A>C (p.Asp154Ala)
c.332A>C (p.Asp111Ala)
c.716A>C (p.Asp239Ala)
c.467A>C (p.Asp156Ala)
c.347A>C (p.Asp116Ala)
8g.100920740C>ACA371640355YWHAZc.691G>T (p.Asp231Tyr)
c.460G>T (p.Asp154Tyr)
c.331G>T (p.Asp111Tyr)
c.715G>T (p.Asp239Tyr)
c.466G>T (p.Asp156Tyr)
c.346G>T (p.Asp116Tyr)
8g.100920740C>GCA371640354YWHAZc.691G>C (p.Asp231His)
c.460G>C (p.Asp154His)
c.331G>C (p.Asp111His)
c.715G>C (p.Asp239His)
c.466G>C (p.Asp156His)
c.346G>C (p.Asp116His)
8g.100920740C>TCA371640353YWHAZc.691G>A (p.Asp231Asn)
c.460G>A (p.Asp154Asn)
c.331G>A (p.Asp111Asn)
c.715G>A (p.Asp239Asn)
c.466G>A (p.Asp156Asn)
c.346G>A (p.Asp116Asn)
8g.100920741C>ACA462194497YWHAZc.690G>T (p.Ser230=)
c.459G>T (p.Ser153=)
c.330G>T (p.Ser110=)
c.714G>T (p.Ser238=)
c.465G>T (p.Ser155=)
c.345G>T (p.Ser115=)
8g.100920741C=CA1806089032YWHAZc.690G= (p.Ser230=)
c.459G= (p.Ser153=)
c.330G= (p.Ser110=)
c.714G= (p.Ser238=)
c.465G= (p.Ser155=)
c.345G= (p.Ser115=)
8g.100920741C>GCA462194498YWHAZc.690G>C (p.Ser230=)
c.459G>C (p.Ser153=)
c.330G>C (p.Ser110=)
c.714G>C (p.Ser238=)
c.465G>C (p.Ser155=)
c.345G>C (p.Ser115=)
8g.100920741C>TCA4829786YWHAZc.690G>A (p.Ser230=)
c.459G>A (p.Ser153=)
c.330G>A (p.Ser110=)
c.714G>A (p.Ser238=)
c.465G>A (p.Ser155=)
c.345G>A (p.Ser115=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920742G>ACA371640356YWHAZc.689C>T (p.Ser230Leu)
c.458C>T (p.Ser153Leu)
c.329C>T (p.Ser110Leu)
c.713C>T (p.Ser238Leu)
c.464C>T (p.Ser155Leu)
c.344C>T (p.Ser115Leu)
gnomAD v4 COSMIC
8g.100920742G>CCA371640357YWHAZc.689C>G (p.Ser230Trp)
c.458C>G (p.Ser153Trp)
c.329C>G (p.Ser110Trp)
c.713C>G (p.Ser238Trp)
c.464C>G (p.Ser155Trp)
c.344C>G (p.Ser115Trp)
ClinVar dbSNP
8g.100920742G=CA1806089033YWHAZc.689C= (p.Ser230=)
c.458C= (p.Ser153=)
c.329C= (p.Ser110=)
c.713C= (p.Ser238=)
c.464C= (p.Ser155=)
c.344C= (p.Ser115=)
8g.100920742G>TCA371640358YWHAZc.689C>A (p.Ser230Ter)
c.458C>A (p.Ser153Ter)
c.329C>A (p.Ser110Ter)
c.713C>A (p.Ser238Ter)
c.464C>A (p.Ser155Ter)
c.344C>A (p.Ser115Ter)
8g.100920743A>CCA371640359YWHAZc.688T>G (p.Ser230Ala)
c.457T>G (p.Ser153Ala)
c.328T>G (p.Ser110Ala)
c.712T>G (p.Ser238Ala)
c.463T>G (p.Ser155Ala)
c.343T>G (p.Ser115Ala)
8g.100920743A>GCA371640360YWHAZc.688T>C (p.Ser230Pro)
c.457T>C (p.Ser153Pro)
c.328T>C (p.Ser110Pro)
c.712T>C (p.Ser238Pro)
c.463T>C (p.Ser155Pro)
c.343T>C (p.Ser115Pro)
8g.100920743A>TCA371640361YWHAZc.688T>A (p.Ser230Thr)
c.457T>A (p.Ser153Thr)
c.328T>A (p.Ser110Thr)
c.712T>A (p.Ser238Thr)
c.463T>A (p.Ser155Thr)
c.343T>A (p.Ser115Thr)
8g.100920743_100920744dupCA913190171YWHAZc.687_688dup (p.Ser230TyrfsTer?)
c.456_457dup (p.Ser153TyrfsTer?)
c.327_328dup (p.Ser110TyrfsTer?)
c.711_712dup (p.Ser238TyrfsTer?)
c.462_463dup (p.Ser155TyrfsTer?)
c.342_343dup (p.Ser115TyrfsTer?)
ClinVar dbSNP
8g.100920744T>ACA462194499YWHAZc.687A>T (p.Thr229=)
c.456A>T (p.Thr152=)
c.327A>T (p.Thr109=)
c.711A>T (p.Thr237=)
c.462A>T (p.Thr154=)
c.342A>T (p.Thr114=)
8g.100920744T>CCA4829787YWHAZc.687A>G (p.Thr229=)
c.456A>G (p.Thr152=)
c.327A>G (p.Thr109=)
c.711A>G (p.Thr237=)
c.462A>G (p.Thr154=)
c.342A>G (p.Thr114=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920744T>GCA462194500YWHAZc.687A>C (p.Thr229=)
c.456A>C (p.Thr152=)
c.327A>C (p.Thr109=)
c.711A>C (p.Thr237=)
c.462A>C (p.Thr154=)
c.342A>C (p.Thr114=)
8g.100920744T=CA1806089034YWHAZc.687A= (p.Thr229=)
c.456A= (p.Thr152=)
c.327A= (p.Thr109=)
c.711A= (p.Thr237=)
c.462A= (p.Thr154=)
c.342A= (p.Thr114=)
8g.100920745G>ACA371640362YWHAZc.686C>T (p.Thr229Ile)
c.455C>T (p.Thr152Ile)
c.326C>T (p.Thr109Ile)
c.710C>T (p.Thr237Ile)
c.461C>T (p.Thr154Ile)
c.341C>T (p.Thr114Ile)
gnomAD v4
8g.100920745G>CCA371640363YWHAZc.686C>G (p.Thr229Arg)
c.455C>G (p.Thr152Arg)
c.326C>G (p.Thr109Arg)
c.710C>G (p.Thr237Arg)
c.461C>G (p.Thr154Arg)
c.341C>G (p.Thr114Arg)
8g.100920745G>TCA371640364YWHAZc.686C>A (p.Thr229Lys)
c.455C>A (p.Thr152Lys)
c.326C>A (p.Thr109Lys)
c.710C>A (p.Thr237Lys)
c.461C>A (p.Thr154Lys)
c.341C>A (p.Thr114Lys)
8g.100920746T>ACA371640367YWHAZc.685A>T (p.Thr229Ser)
c.454A>T (p.Thr152Ser)
c.325A>T (p.Thr109Ser)
c.709A>T (p.Thr237Ser)
c.460A>T (p.Thr154Ser)
c.340A>T (p.Thr114Ser)
8g.100920746T>CCA371640366YWHAZc.685A>G (p.Thr229Ala)
c.454A>G (p.Thr152Ala)
c.325A>G (p.Thr109Ala)
c.709A>G (p.Thr237Ala)
c.460A>G (p.Thr154Ala)
c.340A>G (p.Thr114Ala)
8g.100920746T>GCA371640365YWHAZc.685A>C (p.Thr229Pro)
c.454A>C (p.Thr152Pro)
c.325A>C (p.Thr109Pro)
c.709A>C (p.Thr237Pro)
c.460A>C (p.Thr154Pro)
c.340A>C (p.Thr114Pro)
8g.100920747C>ACA371640368YWHAZc.684G>T (p.Trp228Cys)
c.453G>T (p.Trp151Cys)
c.324G>T (p.Trp108Cys)
c.708G>T (p.Trp236Cys)
c.459G>T (p.Trp153Cys)
c.339G>T (p.Trp113Cys)
8g.100920747C>GCA371640369YWHAZc.684G>C (p.Trp228Cys)
c.453G>C (p.Trp151Cys)
c.324G>C (p.Trp108Cys)
c.708G>C (p.Trp236Cys)
c.459G>C (p.Trp153Cys)
c.339G>C (p.Trp113Cys)
COSMIC
8g.100920747C>TCA371640370YWHAZc.684G>A (p.Trp228Ter)
c.453G>A (p.Trp151Ter)
c.324G>A (p.Trp108Ter)
c.708G>A (p.Trp236Ter)
c.459G>A (p.Trp153Ter)
c.339G>A (p.Trp113Ter)
8g.100920747_100920748delinsTTCA645547628YWHAZc.683_684delinsAA (p.Trp228Ter)
c.452_453delinsAA (p.Trp151Ter)
c.323_324delinsAA (p.Trp108Ter)
c.707_708delinsAA (p.Trp236Ter)
c.458_459delinsAA (p.Trp153Ter)
c.338_339delinsAA (p.Trp113Ter)
COSMIC
8g.100920748C>ACA371640371YWHAZc.683G>T (p.Trp228Leu)
c.452G>T (p.Trp151Leu)
c.323G>T (p.Trp108Leu)
c.707G>T (p.Trp236Leu)
c.458G>T (p.Trp153Leu)
c.338G>T (p.Trp113Leu)
8g.100920748C=CA1806089035YWHAZc.683G= (p.Trp228=)
c.452G= (p.Trp151=)
c.323G= (p.Trp108=)
c.707G= (p.Trp236=)
c.458G= (p.Trp153=)
c.338G= (p.Trp113=)
8g.100920748C>GCA371640372YWHAZc.683G>C (p.Trp228Ser)
c.452G>C (p.Trp151Ser)
c.323G>C (p.Trp108Ser)
c.707G>C (p.Trp236Ser)
c.458G>C (p.Trp153Ser)
c.338G>C (p.Trp113Ser)
8g.100920748C>TCA371640373YWHAZc.683G>A (p.Trp228Ter)
c.452G>A (p.Trp151Ter)
c.323G>A (p.Trp108Ter)
c.707G>A (p.Trp236Ter)
c.458G>A (p.Trp153Ter)
c.338G>A (p.Trp113Ter)
dbSNP gnomAD v2 gnomAD v4
8g.100920749A>CCA371640374YWHAZc.682T>G (p.Trp228Gly)
c.451T>G (p.Trp151Gly)
c.322T>G (p.Trp108Gly)
c.706T>G (p.Trp236Gly)
c.457T>G (p.Trp153Gly)
c.337T>G (p.Trp113Gly)
8g.100920749A>GCA371640375YWHAZc.682T>C (p.Trp228Arg)
c.451T>C (p.Trp151Arg)
c.322T>C (p.Trp108Arg)
c.706T>C (p.Trp236Arg)
c.457T>C (p.Trp153Arg)
c.337T>C (p.Trp113Arg)
8g.100920749A>TCA371640376YWHAZc.682T>A (p.Trp228Arg)
c.451T>A (p.Trp151Arg)
c.322T>A (p.Trp108Arg)
c.706T>A (p.Trp236Arg)
c.457T>A (p.Trp153Arg)
c.337T>A (p.Trp113Arg)
8g.100920750C>ACA371640377YWHAZc.681G>T (p.Leu227Phe)
c.450G>T (p.Leu150Phe)
c.321G>T (p.Leu107Phe)
c.705G>T (p.Leu235Phe)
c.456G>T (p.Leu152Phe)
c.336G>T (p.Leu112Phe)
8g.100920750C>GCA371640378YWHAZc.681G>C (p.Leu227Phe)
c.450G>C (p.Leu150Phe)
c.321G>C (p.Leu107Phe)
c.705G>C (p.Leu235Phe)
c.456G>C (p.Leu152Phe)
c.336G>C (p.Leu112Phe)
8g.100920750C>TCA462194501YWHAZc.681G>A (p.Leu227=)
c.450G>A (p.Leu150=)
c.321G>A (p.Leu107=)
c.705G>A (p.Leu235=)
c.456G>A (p.Leu152=)
c.336G>A (p.Leu112=)
8g.100920751A>CCA371640379YWHAZc.680T>G (p.Leu227Trp)
c.449T>G (p.Leu150Trp)
c.320T>G (p.Leu107Trp)
c.704T>G (p.Leu235Trp)
c.455T>G (p.Leu152Trp)
c.335T>G (p.Leu112Trp)
8g.100920751A>GCA371640380YWHAZc.680T>C (p.Leu227Ser)
c.449T>C (p.Leu150Ser)
c.320T>C (p.Leu107Ser)
c.704T>C (p.Leu235Ser)
c.455T>C (p.Leu152Ser)
c.335T>C (p.Leu112Ser)
8g.100920751A>TCA371640381YWHAZc.680T>A (p.Leu227Ter)
c.449T>A (p.Leu150Ter)
c.320T>A (p.Leu107Ter)
c.704T>A (p.Leu235Ter)
c.455T>A (p.Leu152Ter)
c.335T>A (p.Leu112Ter)
8g.100920752A>CCA371640382YWHAZc.679T>G (p.Leu227Val)
c.448T>G (p.Leu150Val)
c.319T>G (p.Leu107Val)
c.703T>G (p.Leu235Val)
c.454T>G (p.Leu152Val)
c.334T>G (p.Leu112Val)
8g.100920752A>GCA462194502YWHAZc.679T>C (p.Leu227=)
c.448T>C (p.Leu150=)
c.319T>C (p.Leu107=)
c.703T>C (p.Leu235=)
c.454T>C (p.Leu152=)
c.334T>C (p.Leu112=)
8g.100920752A>TCA371640383YWHAZc.679T>A (p.Leu227Met)
c.448T>A (p.Leu150Met)
c.319T>A (p.Leu107Met)
c.703T>A (p.Leu235Met)
c.454T>A (p.Leu152Met)
c.334T>A (p.Leu112Met)
8g.100920752_100920753insTGTCA1117189915YWHAZc.679-1_679insACA (n.679-1_679insACA)
c.448-1_448insACA (n.448-1_448insACA)
c.319-1_319insACA (n.319-1_319insACA)
c.703-1_703insACA (n.703-1_703insACA)
c.454-1_454insACA (n.454-1_454insACA)
c.334-1_334insACA (n.334-1_334insACA)
gnomAD v3 gnomAD v4
8g.100920753delCA2717900835YWHAZc.679-1del (n.679-1del)
c.448-1del (n.448-1del)
c.319-1del (n.319-1del)
c.703-1del (n.703-1del)
c.454-1del (n.454-1del)
c.334-1del (n.334-1del)
dbSNP
8g.100920753C>ACA371640384YWHAZc.679-1G>T (n.679-1G>T)
c.448-1G>T (n.448-1G>T)
c.319-1G>T (n.319-1G>T)
c.703-1G>T (n.703-1G>T)
c.454-1G>T (n.454-1G>T)
c.334-1G>T (n.334-1G>T)
8g.100920753C>GCA371640385YWHAZc.679-1G>C (n.679-1G>C)
c.448-1G>C (n.448-1G>C)
c.319-1G>C (n.319-1G>C)
c.703-1G>C (n.703-1G>C)
c.454-1G>C (n.454-1G>C)
c.334-1G>C (n.334-1G>C)
8g.100920753C>TCA371640386YWHAZc.679-1G>A (n.679-1G>A)
c.448-1G>A (n.448-1G>A)
c.319-1G>A (n.319-1G>A)
c.703-1G>A (n.703-1G>A)
c.454-1G>A (n.454-1G>A)
c.334-1G>A (n.334-1G>A)
8g.100920753_100920754insAAGTCA2688116767YWHAZc.679-2_679-1insACTT (n.679-2_679-1insACTT)
c.448-2_448-1insACTT (n.448-2_448-1insACTT)
c.319-2_319-1insACTT (n.319-2_319-1insACTT)
c.703-2_703-1insACTT (n.703-2_703-1insACTT)
c.454-2_454-1insACTT (n.454-2_454-1insACTT)
c.334-2_334-1insACTT (n.334-2_334-1insACTT)
gnomAD v4
8g.100920754T>ACA371640387YWHAZc.679-2A>T (n.679-2A>T)
c.448-2A>T (n.448-2A>T)
c.319-2A>T (n.319-2A>T)
c.703-2A>T (n.703-2A>T)
c.454-2A>T (n.454-2A>T)
c.334-2A>T (n.334-2A>T)
8g.100920754T>CCA371640388YWHAZc.679-2A>G (n.679-2A>G)
c.448-2A>G (n.448-2A>G)
c.319-2A>G (n.319-2A>G)
c.703-2A>G (n.703-2A>G)
c.454-2A>G (n.454-2A>G)
c.334-2A>G (n.334-2A>G)
8g.100920754T>GCA371640389YWHAZc.679-2A>C (n.679-2A>C)
c.448-2A>C (n.448-2A>C)
c.319-2A>C (n.319-2A>C)
c.703-2A>C (n.703-2A>C)
c.454-2A>C (n.454-2A>C)
c.334-2A>C (n.334-2A>C)

Number of alleles fetched