Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
8g.100920755G>TCA2688116768YWHAZc.679-3C>A (n.679-3C>A)
c.448-3C>A (n.448-3C>A)
c.319-3C>A (n.319-3C>A)
c.703-3C>A (n.703-3C>A)
c.454-3C>A (n.454-3C>A)
c.334-3C>A (n.334-3C>A)
 gnomAD v4
8g.100920756G>ACA2579219757YWHAZc.679-4C>T (n.679-4C>T)
c.448-4C>T (n.448-4C>T)
c.319-4C>T (n.319-4C>T)
c.703-4C>T (n.703-4C>T)
c.454-4C>T (n.454-4C>T)
c.334-4C>T (n.334-4C>T)
8g.100920756G>TCA2688116769YWHAZc.679-4C>A (n.679-4C>A)
c.448-4C>A (n.448-4C>A)
c.319-4C>A (n.319-4C>A)
c.703-4C>A (n.703-4C>A)
c.454-4C>A (n.454-4C>A)
c.334-4C>A (n.334-4C>A)
 dbSNP gnomAD v4
8g.100920757delCA2781509260YWHAZc.679-5del (n.679-5del)
c.448-5del (n.448-5del)
c.319-5del (n.319-5del)
c.703-5del (n.703-5del)
c.454-5del (n.454-5del)
c.334-5del (n.334-5del)
8g.100920757T>CCA2688116770YWHAZc.679-5A>G (n.679-5A>G)
c.448-5A>G (n.448-5A>G)
c.319-5A>G (n.319-5A>G)
c.703-5A>G (n.703-5A>G)
c.454-5A>G (n.454-5A>G)
c.334-5A>G (n.334-5A>G)
 dbSNP gnomAD v4
8g.100920758A>CCA2688116772YWHAZc.679-6T>G (n.679-6T>G)
c.448-6T>G (n.448-6T>G)
c.319-6T>G (n.319-6T>G)
c.703-6T>G (n.703-6T>G)
c.454-6T>G (n.454-6T>G)
c.334-6T>G (n.334-6T>G)
 gnomAD v4
8g.100920758A>GCA2579219758YWHAZc.679-6T>C (n.679-6T>C)
c.448-6T>C (n.448-6T>C)
c.319-6T>C (n.319-6T>C)
c.703-6T>C (n.703-6T>C)
c.454-6T>C (n.454-6T>C)
c.334-6T>C (n.334-6T>C)
 gnomAD v4
8g.100920761delCA2688116771YWHAZc.679-6del (n.679-6del)
c.448-6del (n.448-6del)
c.319-6del (n.319-6del)
c.703-6del (n.703-6del)
c.454-6del (n.454-6del)
c.334-6del (n.334-6del)
 gnomAD v4
8g.100920759_100920762delinsAAAGCA1806089036YWHAZc.679-10_679-7delinsCTTT (n.679-10_679-7delinsCTTT)
c.448-10_448-7delinsCTTT (n.448-10_448-7delinsCTTT)
c.319-10_319-7delinsCTTT (n.319-10_319-7delinsCTTT)
c.703-10_703-7delinsCTTT (n.703-10_703-7delinsCTTT)
c.454-10_454-7delinsCTTT (n.454-10_454-7delinsCTTT)
c.334-10_334-7delinsCTTT (n.334-10_334-7delinsCTTT)
8g.100920760A=CA1806089037YWHAZc.679-8T= (n.679-8T=)
c.448-8T= (n.448-8T=)
c.319-8T= (n.319-8T=)
c.703-8T= (n.703-8T=)
c.454-8T= (n.454-8T=)
c.334-8T= (n.334-8T=)
8g.100920760A>TCA182492523YWHAZc.679-8T>A (n.679-8T>A)
c.448-8T>A (n.448-8T>A)
c.319-8T>A (n.319-8T>A)
c.703-8T>A (n.703-8T>A)
c.454-8T>A (n.454-8T>A)
c.334-8T>A (n.334-8T>A)
 dbSNP gnomAD v4
8g.100920763_100920765delCA584007073YWHAZc.679-10_679-8del (n.679-10_679-8del)
c.448-10_448-8del (n.448-10_448-8del)
c.319-10_319-8del (n.319-10_319-8del)
c.703-10_703-8del (n.703-10_703-8del)
c.454-10_454-8del (n.454-10_454-8del)
c.334-10_334-8del (n.334-10_334-8del)
 dbSNP gnomAD v2 gnomAD v4
8g.100920761A>GCA2688116773YWHAZc.679-9T>C (n.679-9T>C)
c.448-9T>C (n.448-9T>C)
c.319-9T>C (n.319-9T>C)
c.703-9T>C (n.703-9T>C)
c.454-9T>C (n.454-9T>C)
c.334-9T>C (n.334-9T>C)
 gnomAD v4
8g.100920761_100920762delinsAGCA1806089038YWHAZc.679-10_679-9delinsCT (n.679-10_679-9delinsCT)
c.448-10_448-9delinsCT (n.448-10_448-9delinsCT)
c.319-10_319-9delinsCT (n.319-10_319-9delinsCT)
c.703-10_703-9delinsCT (n.703-10_703-9delinsCT)
c.454-10_454-9delinsCT (n.454-10_454-9delinsCT)
c.334-10_334-9delinsCT (n.334-10_334-9delinsCT)
8g.100920762delCA1117189918YWHAZc.679-10del (n.679-10del)
c.448-10del (n.448-10del)
c.319-10del (n.319-10del)
c.703-10del (n.703-10del)
c.454-10del (n.454-10del)
c.334-10del (n.334-10del)
 dbSNP gnomAD v3 gnomAD v4
8g.100920762G>CCA2688116774YWHAZc.679-10C>G (n.679-10C>G)
c.448-10C>G (n.448-10C>G)
c.319-10C>G (n.319-10C>G)
c.703-10C>G (n.703-10C>G)
c.454-10C>G (n.454-10C>G)
c.334-10C>G (n.334-10C>G)
 gnomAD v4
8g.100920762G>TCA2688116775YWHAZc.679-10C>A (n.679-10C>A)
c.448-10C>A (n.448-10C>A)
c.319-10C>A (n.319-10C>A)
c.703-10C>A (n.703-10C>A)
c.454-10C>A (n.454-10C>A)
c.334-10C>A (n.334-10C>A)
 gnomAD v4
8g.100920763A=CA1806089039YWHAZc.679-11T= (n.679-11T=)
c.448-11T= (n.448-11T=)
c.319-11T= (n.319-11T=)
c.703-11T= (n.703-11T=)
c.454-11T= (n.454-11T=)
c.334-11T= (n.334-11T=)
8g.100920763A>GCA4829788YWHAZc.679-11T>C (n.679-11T>C)
c.448-11T>C (n.448-11T>C)
c.319-11T>C (n.319-11T>C)
c.703-11T>C (n.703-11T>C)
c.454-11T>C (n.454-11T>C)
c.334-11T>C (n.334-11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920764A=CA1806089040YWHAZc.679-12T= (n.679-12T=)
c.448-12T= (n.448-12T=)
c.319-12T= (n.319-12T=)
c.703-12T= (n.703-12T=)
c.454-12T= (n.454-12T=)
c.334-12T= (n.334-12T=)
8g.100920764A>GCA4829789YWHAZc.679-12T>C (n.679-12T>C)
c.448-12T>C (n.448-12T>C)
c.319-12T>C (n.319-12T>C)
c.703-12T>C (n.703-12T>C)
c.454-12T>C (n.454-12T>C)
c.334-12T>C (n.334-12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920765G>ACA2781509261YWHAZc.679-13C>T (n.679-13C>T)
c.448-13C>T (n.448-13C>T)
c.319-13C>T (n.319-13C>T)
c.703-13C>T (n.703-13C>T)
c.454-13C>T (n.454-13C>T)
c.334-13C>T (n.334-13C>T)
8g.100920765G>TCA2688116776YWHAZc.679-13C>A (n.679-13C>A)
c.448-13C>A (n.448-13C>A)
c.319-13C>A (n.319-13C>A)
c.703-13C>A (n.703-13C>A)
c.454-13C>A (n.454-13C>A)
c.334-13C>A (n.334-13C>A)
 gnomAD v4
8g.100920766G>ACA4829790YWHAZc.679-14C>T (n.679-14C>T)
c.448-14C>T (n.448-14C>T)
c.319-14C>T (n.319-14C>T)
c.703-14C>T (n.703-14C>T)
c.454-14C>T (n.454-14C>T)
c.334-14C>T (n.334-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920766G>CCA1806089042YWHAZc.679-14C>G (n.679-14C>G)
c.448-14C>G (n.448-14C>G)
c.319-14C>G (n.319-14C>G)
c.703-14C>G (n.703-14C>G)
c.454-14C>G (n.454-14C>G)
c.334-14C>G (n.334-14C>G)
 dbSNP
8g.100920766G=CA1806089041YWHAZc.679-14C= (n.679-14C=)
c.448-14C= (n.448-14C=)
c.319-14C= (n.319-14C=)
c.703-14C= (n.703-14C=)
c.454-14C= (n.454-14C=)
c.334-14C= (n.334-14C=)
8g.100920766G>TCA2688116777YWHAZc.679-14C>A (n.679-14C>A)
c.448-14C>A (n.448-14C>A)
c.319-14C>A (n.319-14C>A)
c.703-14C>A (n.703-14C>A)
c.454-14C>A (n.454-14C>A)
c.334-14C>A (n.334-14C>A)
 gnomAD v4
8g.100920767A=CA1806089043YWHAZc.679-15T= (n.679-15T=)
c.448-15T= (n.448-15T=)
c.319-15T= (n.319-15T=)
c.703-15T= (n.703-15T=)
c.454-15T= (n.454-15T=)
c.334-15T= (n.334-15T=)
8g.100920767A>GCA462194503YWHAZc.679-15T>C (n.679-15T>C)
c.448-15T>C (n.448-15T>C)
c.319-15T>C (n.319-15T>C)
c.703-15T>C (n.703-15T>C)
c.454-15T>C (n.454-15T>C)
c.334-15T>C (n.334-15T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.100920767A>TCA2551747419YWHAZc.679-15T>A (n.679-15T>A)
c.448-15T>A (n.448-15T>A)
c.319-15T>A (n.319-15T>A)
c.703-15T>A (n.703-15T>A)
c.454-15T>A (n.454-15T>A)
c.334-15T>A (n.334-15T>A)
8g.100920767_100920769delCA2781509263YWHAZc.679-17_679-15del (n.679-17_679-15del)
c.448-17_448-15del (n.448-17_448-15del)
c.319-17_319-15del (n.319-17_319-15del)
c.703-17_703-15del (n.703-17_703-15del)
c.454-17_454-15del (n.454-17_454-15del)
c.334-17_334-15del (n.334-17_334-15del)
8g.100920769delCA2688116778YWHAZc.679-15del (n.679-15del)
c.448-15del (n.448-15del)
c.319-15del (n.319-15del)
c.703-15del (n.703-15del)
c.454-15del (n.454-15del)
c.334-15del (n.334-15del)
 gnomAD v4
8g.100920768A>CCA2688116779YWHAZc.679-16T>G (n.679-16T>G)
c.448-16T>G (n.448-16T>G)
c.319-16T>G (n.319-16T>G)
c.703-16T>G (n.703-16T>G)
c.454-16T>G (n.454-16T>G)
c.334-16T>G (n.334-16T>G)
 gnomAD v4
8g.100920769A>GCA2558854263YWHAZc.679-17T>C (n.679-17T>C)
c.448-17T>C (n.448-17T>C)
c.319-17T>C (n.319-17T>C)
c.703-17T>C (n.703-17T>C)
c.454-17T>C (n.454-17T>C)
c.334-17T>C (n.334-17T>C)
 gnomAD v4
8g.100920770G>CCA584007074YWHAZc.679-18C>G (n.679-18C>G)
c.448-18C>G (n.448-18C>G)
c.319-18C>G (n.319-18C>G)
c.703-18C>G (n.703-18C>G)
c.454-18C>G (n.454-18C>G)
c.334-18C>G (n.334-18C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.100920770G=CA1806089044YWHAZc.679-18C= (n.679-18C=)
c.448-18C= (n.448-18C=)
c.319-18C= (n.319-18C=)
c.703-18C= (n.703-18C=)
c.454-18C= (n.454-18C=)
c.334-18C= (n.334-18C=)
8g.100920770G>TCA4829791YWHAZc.679-18C>A (n.679-18C>A)
c.448-18C>A (n.448-18C>A)
c.319-18C>A (n.319-18C>A)
c.703-18C>A (n.703-18C>A)
c.454-18C>A (n.454-18C>A)
c.334-18C>A (n.334-18C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920771A=CA1806089045YWHAZc.679-19T= (n.679-19T=)
c.448-19T= (n.448-19T=)
c.319-19T= (n.319-19T=)
c.703-19T= (n.703-19T=)
c.454-19T= (n.454-19T=)
c.334-19T= (n.334-19T=)
8g.100920771A>CCA2688116780YWHAZc.679-19T>G (n.679-19T>G)
c.448-19T>G (n.448-19T>G)
c.319-19T>G (n.319-19T>G)
c.703-19T>G (n.703-19T>G)
c.454-19T>G (n.454-19T>G)
c.334-19T>G (n.334-19T>G)
 gnomAD v4
8g.100920771A>GCA4829792YWHAZc.679-19T>C (n.679-19T>C)
c.448-19T>C (n.448-19T>C)
c.319-19T>C (n.319-19T>C)
c.703-19T>C (n.703-19T>C)
c.454-19T>C (n.454-19T>C)
c.334-19T>C (n.334-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920771A>TCA844642159YWHAZc.679-19T>A (n.679-19T>A)
c.448-19T>A (n.448-19T>A)
c.319-19T>A (n.319-19T>A)
c.703-19T>A (n.703-19T>A)
c.454-19T>A (n.454-19T>A)
c.334-19T>A (n.334-19T>A)
 dbSNP gnomAD v4
8g.100920772T>CCA2688116783YWHAZc.679-20A>G (n.679-20A>G)
c.448-20A>G (n.448-20A>G)
c.319-20A>G (n.319-20A>G)
c.703-20A>G (n.703-20A>G)
c.454-20A>G (n.454-20A>G)
c.334-20A>G (n.334-20A>G)
 gnomAD v4
8g.100920772T>GCA584007075YWHAZc.679-20A>C (n.679-20A>C)
c.448-20A>C (n.448-20A>C)
c.319-20A>C (n.319-20A>C)
c.703-20A>C (n.703-20A>C)
c.454-20A>C (n.454-20A>C)
c.334-20A>C (n.334-20A>C)
 dbSNP gnomAD v2 gnomAD v4
8g.100920772T=CA1806089046YWHAZc.679-20A= (n.679-20A=)
c.448-20A= (n.448-20A=)
c.319-20A= (n.319-20A=)
c.703-20A= (n.703-20A=)
c.454-20A= (n.454-20A=)
c.334-20A= (n.334-20A=)
8g.100920776dupCA2688116781YWHAZc.679-20dup (n.679-20dup)
c.448-20dup (n.448-20dup)
c.319-20dup (n.319-20dup)
c.703-20dup (n.703-20dup)
c.454-20dup (n.454-20dup)
c.334-20dup (n.334-20dup)
 gnomAD v4
8g.100920776delCA2688116782YWHAZc.679-20del (n.679-20del)
c.448-20del (n.448-20del)
c.319-20del (n.319-20del)
c.703-20del (n.703-20del)
c.454-20del (n.454-20del)
c.334-20del (n.334-20del)
 gnomAD v4
8g.100920773T>GCA2781509264YWHAZc.679-21A>C (n.679-21A>C)
c.448-21A>C (n.448-21A>C)
c.319-21A>C (n.319-21A>C)
c.703-21A>C (n.703-21A>C)
c.454-21A>C (n.454-21A>C)
c.334-21A>C (n.334-21A>C)
8g.100920774_100920788delCA2557098160YWHAZc.679-36_679-22del (n.679-36_679-22del)
c.448-36_448-22del (n.448-36_448-22del)
c.319-36_319-22del (n.319-36_319-22del)
c.703-36_703-22del (n.703-36_703-22del)
c.454-36_454-22del (n.454-36_454-22del)
c.334-36_334-22del (n.334-36_334-22del)
8g.100920774_100920809delCA2781509265YWHAZc.679-57_679-22del (n.679-57_679-22del)
c.448-57_448-22del (n.448-57_448-22del)
c.319-57_319-22del (n.319-57_319-22del)
c.703-57_703-22del (n.703-57_703-22del)
c.454-57_454-22del (n.454-57_454-22del)
c.334-57_334-22del (n.334-57_334-22del)
8g.100920775T>ACA2688116785YWHAZc.679-23A>T (n.679-23A>T)
c.448-23A>T (n.448-23A>T)
c.319-23A>T (n.319-23A>T)
c.703-23A>T (n.703-23A>T)
c.454-23A>T (n.454-23A>T)
c.334-23A>T (n.334-23A>T)
 gnomAD v4
8g.100920775T>CCA2688116784YWHAZc.679-23A>G (n.679-23A>G)
c.448-23A>G (n.448-23A>G)
c.319-23A>G (n.319-23A>G)
c.703-23A>G (n.703-23A>G)
c.454-23A>G (n.454-23A>G)
c.334-23A>G (n.334-23A>G)
 gnomAD v4
8g.100920776T>CCA2688116786YWHAZc.679-24A>G (n.679-24A>G)
c.448-24A>G (n.448-24A>G)
c.319-24A>G (n.319-24A>G)
c.703-24A>G (n.703-24A>G)
c.454-24A>G (n.454-24A>G)
c.334-24A>G (n.334-24A>G)
 gnomAD v4
8g.100920777C>ACA2688116787YWHAZc.679-25G>T (n.679-25G>T)
c.448-25G>T (n.448-25G>T)
c.319-25G>T (n.319-25G>T)
c.703-25G>T (n.703-25G>T)
c.454-25G>T (n.454-25G>T)
c.334-25G>T (n.334-25G>T)
 gnomAD v4
8g.100920777C>TCA2688116788YWHAZc.679-25G>A (n.679-25G>A)
c.448-25G>A (n.448-25G>A)
c.319-25G>A (n.319-25G>A)
c.703-25G>A (n.703-25G>A)
c.454-25G>A (n.454-25G>A)
c.334-25G>A (n.334-25G>A)
 gnomAD v4
8g.100920778A>GCA2688116789YWHAZc.679-26T>C (n.679-26T>C)
c.448-26T>C (n.448-26T>C)
c.319-26T>C (n.319-26T>C)
c.703-26T>C (n.703-26T>C)
c.454-26T>C (n.454-26T>C)
c.334-26T>C (n.334-26T>C)
 gnomAD v4
8g.100920778A>TCA2688116790YWHAZc.679-26T>A (n.679-26T>A)
c.448-26T>A (n.448-26T>A)
c.319-26T>A (n.319-26T>A)
c.703-26T>A (n.703-26T>A)
c.454-26T>A (n.454-26T>A)
c.334-26T>A (n.334-26T>A)
 gnomAD v4
8g.100920779G>ACA1806089047YWHAZc.679-27C>T (n.679-27C>T)
c.448-27C>T (n.448-27C>T)
c.319-27C>T (n.319-27C>T)
c.703-27C>T (n.703-27C>T)
c.454-27C>T (n.454-27C>T)
c.334-27C>T (n.334-27C>T)
 dbSNP gnomAD v4
8g.100920779G>CCA4829794YWHAZc.679-27C>G (n.679-27C>G)
c.448-27C>G (n.448-27C>G)
c.319-27C>G (n.319-27C>G)
c.703-27C>G (n.703-27C>G)
c.454-27C>G (n.454-27C>G)
c.334-27C>G (n.334-27C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920779G=CA1806089048YWHAZc.679-27C= (n.679-27C=)
c.448-27C= (n.448-27C=)
c.319-27C= (n.319-27C=)
c.703-27C= (n.703-27C=)
c.454-27C= (n.454-27C=)
c.334-27C= (n.334-27C=)
8g.100920779G>TCA2688116791YWHAZc.679-27C>A (n.679-27C>A)
c.448-27C>A (n.448-27C>A)
c.319-27C>A (n.319-27C>A)
c.703-27C>A (n.703-27C>A)
c.454-27C>A (n.454-27C>A)
c.334-27C>A (n.334-27C>A)
 gnomAD v4
8g.100920780C>ACA1117189923YWHAZc.679-28G>T (n.679-28G>T)
c.448-28G>T (n.448-28G>T)
c.319-28G>T (n.319-28G>T)
c.703-28G>T (n.703-28G>T)
c.454-28G>T (n.454-28G>T)
c.334-28G>T (n.334-28G>T)
 gnomAD v3 gnomAD v4
8g.100920780C>GCA2688116793YWHAZc.679-28G>C (n.679-28G>C)
c.448-28G>C (n.448-28G>C)
c.319-28G>C (n.319-28G>C)
c.703-28G>C (n.703-28G>C)
c.454-28G>C (n.454-28G>C)
c.334-28G>C (n.334-28G>C)
 gnomAD v4
8g.100920780C>TCA2688116792YWHAZc.679-28G>A (n.679-28G>A)
c.448-28G>A (n.448-28G>A)
c.319-28G>A (n.319-28G>A)
c.703-28G>A (n.703-28G>A)
c.454-28G>A (n.454-28G>A)
c.334-28G>A (n.334-28G>A)
 gnomAD v4
8g.100920780dupCA4829793YWHAZc.679-28dup (n.679-28dup)
c.448-28dup (n.448-28dup)
c.319-28dup (n.319-28dup)
c.703-28dup (n.703-28dup)
c.454-28dup (n.454-28dup)
c.334-28dup (n.334-28dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920781A>CCA2688116794YWHAZc.679-29T>G (n.679-29T>G)
c.448-29T>G (n.448-29T>G)
c.319-29T>G (n.319-29T>G)
c.703-29T>G (n.703-29T>G)
c.454-29T>G (n.454-29T>G)
c.334-29T>G (n.334-29T>G)
 gnomAD v4
8g.100920781A>TCA2688116795YWHAZc.679-29T>A (n.679-29T>A)
c.448-29T>A (n.448-29T>A)
c.319-29T>A (n.319-29T>A)
c.703-29T>A (n.703-29T>A)
c.454-29T>A (n.454-29T>A)
c.334-29T>A (n.334-29T>A)
 gnomAD v4
8g.100920782A>CCA2688116797YWHAZc.679-30T>G (n.679-30T>G)
c.448-30T>G (n.448-30T>G)
c.319-30T>G (n.319-30T>G)
c.703-30T>G (n.703-30T>G)
c.454-30T>G (n.454-30T>G)
c.334-30T>G (n.334-30T>G)
 gnomAD v4
8g.100920782A>GCA1117189925YWHAZc.679-30T>C (n.679-30T>C)
c.448-30T>C (n.448-30T>C)
c.319-30T>C (n.319-30T>C)
c.703-30T>C (n.703-30T>C)
c.454-30T>C (n.454-30T>C)
c.334-30T>C (n.334-30T>C)
 gnomAD v3 gnomAD v4
8g.100920782A>TCA2688116796YWHAZc.679-30T>A (n.679-30T>A)
c.448-30T>A (n.448-30T>A)
c.319-30T>A (n.319-30T>A)
c.703-30T>A (n.703-30T>A)
c.454-30T>A (n.454-30T>A)
c.334-30T>A (n.334-30T>A)
 gnomAD v4
8g.100920783G>ACA2688116798YWHAZc.679-31C>T (n.679-31C>T)
c.448-31C>T (n.448-31C>T)
c.319-31C>T (n.319-31C>T)
c.703-31C>T (n.703-31C>T)
c.454-31C>T (n.454-31C>T)
c.334-31C>T (n.334-31C>T)
 gnomAD v4
8g.100920783G>CCA2579219759YWHAZc.679-31C>G (n.679-31C>G)
c.448-31C>G (n.448-31C>G)
c.319-31C>G (n.319-31C>G)
c.703-31C>G (n.703-31C>G)
c.454-31C>G (n.454-31C>G)
c.334-31C>G (n.334-31C>G)
 gnomAD v4
8g.100920783G>TCA1117189926YWHAZc.679-31C>A (n.679-31C>A)
c.448-31C>A (n.448-31C>A)
c.319-31C>A (n.319-31C>A)
c.703-31C>A (n.703-31C>A)
c.454-31C>A (n.454-31C>A)
c.334-31C>A (n.334-31C>A)
 gnomAD v3 gnomAD v4
8g.100920784T>ACA2688116800YWHAZc.679-32A>T (n.679-32A>T)
c.448-32A>T (n.448-32A>T)
c.319-32A>T (n.319-32A>T)
c.703-32A>T (n.703-32A>T)
c.454-32A>T (n.454-32A>T)
c.334-32A>T (n.334-32A>T)
 gnomAD v4
8g.100920784T>CCA2688116801YWHAZc.679-32A>G (n.679-32A>G)
c.448-32A>G (n.448-32A>G)
c.319-32A>G (n.319-32A>G)
c.703-32A>G (n.703-32A>G)
c.454-32A>G (n.454-32A>G)
c.334-32A>G (n.334-32A>G)
 gnomAD v4
8g.100920784T>GCA2688116802YWHAZc.679-32A>C (n.679-32A>C)
c.448-32A>C (n.448-32A>C)
c.319-32A>C (n.319-32A>C)
c.703-32A>C (n.703-32A>C)
c.454-32A>C (n.454-32A>C)
c.334-32A>C (n.334-32A>C)
 gnomAD v4
8g.100920786delCA2688116799YWHAZc.679-32del (n.679-32del)
c.448-32del (n.448-32del)
c.319-32del (n.319-32del)
c.703-32del (n.703-32del)
c.454-32del (n.454-32del)
c.334-32del (n.334-32del)
 gnomAD v4
8g.100920785T>CCA2688116803YWHAZc.679-33A>G (n.679-33A>G)
c.448-33A>G (n.448-33A>G)
c.319-33A>G (n.319-33A>G)
c.703-33A>G (n.703-33A>G)
c.454-33A>G (n.454-33A>G)
c.334-33A>G (n.334-33A>G)
 gnomAD v4
8g.100920785T>GCA2688116804YWHAZc.679-33A>C (n.679-33A>C)
c.448-33A>C (n.448-33A>C)
c.319-33A>C (n.319-33A>C)
c.703-33A>C (n.703-33A>C)
c.454-33A>C (n.454-33A>C)
c.334-33A>C (n.334-33A>C)
 gnomAD v4
8g.100920785T=CA1806089049YWHAZc.679-33A= (n.679-33A=)
c.448-33A= (n.448-33A=)
c.319-33A= (n.319-33A=)
c.703-33A= (n.703-33A=)
c.454-33A= (n.454-33A=)
c.334-33A= (n.334-33A=)
8g.100920785_100920786insACA584007076YWHAZc.679-34_679-33insT (n.679-34_679-33insT)
c.448-34_448-33insT (n.448-34_448-33insT)
c.319-34_319-33insT (n.319-34_319-33insT)
c.703-34_703-33insT (n.703-34_703-33insT)
c.454-34_454-33insT (n.454-34_454-33insT)
c.334-34_334-33insT (n.334-34_334-33insT)
 dbSNP gnomAD v2
8g.100920785_100920786insGGGGGGGGGGGGGGGCA2781509268YWHAZc.679-34_679-33insCCCCCCCCCCCCCCC (n.679-34_679-33insCCCCCCCCCCCCCCC)
c.448-34_448-33insCCCCCCCCCCCCCCC (n.448-34_448-33insCCCCCCCCCCCCCCC)
c.319-34_319-33insCCCCCCCCCCCCCCC (n.319-34_319-33insCCCCCCCCCCCCCCC)
c.703-34_703-33insCCCCCCCCCCCCCCC (n.703-34_703-33insCCCCCCCCCCCCCCC)
c.454-34_454-33insCCCCCCCCCCCCCCC (n.454-34_454-33insCCCCCCCCCCCCCCC)
c.334-34_334-33insCCCCCCCCCCCCCCC (n.334-34_334-33insCCCCCCCCCCCCCCC)
8g.100920786T>ACA2688116805YWHAZc.679-34A>T (n.679-34A>T)
c.448-34A>T (n.448-34A>T)
c.319-34A>T (n.319-34A>T)
c.703-34A>T (n.703-34A>T)
c.454-34A>T (n.454-34A>T)
c.334-34A>T (n.334-34A>T)
 gnomAD v4
8g.100920786T>CCA2688116806YWHAZc.679-34A>G (n.679-34A>G)
c.448-34A>G (n.448-34A>G)
c.319-34A>G (n.319-34A>G)
c.703-34A>G (n.703-34A>G)
c.454-34A>G (n.454-34A>G)
c.334-34A>G (n.334-34A>G)
 gnomAD v4
8g.100920786T>GCA2688116807YWHAZc.679-34A>C (n.679-34A>C)
c.448-34A>C (n.448-34A>C)
c.319-34A>C (n.319-34A>C)
c.703-34A>C (n.703-34A>C)
c.454-34A>C (n.454-34A>C)
c.334-34A>C (n.334-34A>C)
 gnomAD v4
8g.100920787C>ACA584007077YWHAZc.679-35G>T (n.679-35G>T)
c.448-35G>T (n.448-35G>T)
c.319-35G>T (n.319-35G>T)
c.703-35G>T (n.703-35G>T)
c.454-35G>T (n.454-35G>T)
c.334-35G>T (n.334-35G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920787C=CA1806089050YWHAZc.679-35G= (n.679-35G=)
c.448-35G= (n.448-35G=)
c.319-35G= (n.319-35G=)
c.703-35G= (n.703-35G=)
c.454-35G= (n.454-35G=)
c.334-35G= (n.334-35G=)
8g.100920787C>GCA2688116810YWHAZc.679-35G>C (n.679-35G>C)
c.448-35G>C (n.448-35G>C)
c.319-35G>C (n.319-35G>C)
c.703-35G>C (n.703-35G>C)
c.454-35G>C (n.454-35G>C)
c.334-35G>C (n.334-35G>C)
 gnomAD v4
8g.100920787C>TCA2688116809YWHAZc.679-35G>A (n.679-35G>A)
c.448-35G>A (n.448-35G>A)
c.319-35G>A (n.319-35G>A)
c.703-35G>A (n.703-35G>A)
c.454-35G>A (n.454-35G>A)
c.334-35G>A (n.334-35G>A)
 gnomAD v4
8g.100920787_100920788delCA2781509269YWHAZc.679-36_679-35del (n.679-36_679-35del)
c.448-36_448-35del (n.448-36_448-35del)
c.319-36_319-35del (n.319-36_319-35del)
c.703-36_703-35del (n.703-36_703-35del)
c.454-36_454-35del (n.454-36_454-35del)
c.334-36_334-35del (n.334-36_334-35del)
8g.100920787_100920789delCA2688116808YWHAZc.679-37_679-35del (n.679-37_679-35del)
c.448-37_448-35del (n.448-37_448-35del)
c.319-37_319-35del (n.319-37_319-35del)
c.703-37_703-35del (n.703-37_703-35del)
c.454-37_454-35del (n.454-37_454-35del)
c.334-37_334-35del (n.334-37_334-35del)
 gnomAD v4
8g.100920788delCA2688116811YWHAZc.679-36del (n.679-36del)
c.448-36del (n.448-36del)
c.319-36del (n.319-36del)
c.703-36del (n.703-36del)
c.454-36del (n.454-36del)
c.334-36del (n.334-36del)
 gnomAD v4
8g.100920788A=CA1806089051YWHAZc.679-36T= (n.679-36T=)
c.448-36T= (n.448-36T=)
c.319-36T= (n.319-36T=)
c.703-36T= (n.703-36T=)
c.454-36T= (n.454-36T=)
c.334-36T= (n.334-36T=)
8g.100920788A>CCA2602680049YWHAZc.679-36T>G (n.679-36T>G)
c.448-36T>G (n.448-36T>G)
c.319-36T>G (n.319-36T>G)
c.703-36T>G (n.703-36T>G)
c.454-36T>G (n.454-36T>G)
c.334-36T>G (n.334-36T>G)
 gnomAD v3 gnomAD v4
8g.100920788A>GCA584007078YWHAZc.679-36T>C (n.679-36T>C)
c.448-36T>C (n.448-36T>C)
c.319-36T>C (n.319-36T>C)
c.703-36T>C (n.703-36T>C)
c.454-36T>C (n.454-36T>C)
c.334-36T>C (n.334-36T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920788A>TCA844642176YWHAZc.679-36T>A (n.679-36T>A)
c.448-36T>A (n.448-36T>A)
c.319-36T>A (n.319-36T>A)
c.703-36T>A (n.703-36T>A)
c.454-36T>A (n.454-36T>A)
c.334-36T>A (n.334-36T>A)
 dbSNP gnomAD v3 gnomAD v4
8g.100920789G>ACA4829795YWHAZc.679-37C>T (n.679-37C>T)
c.448-37C>T (n.448-37C>T)
c.319-37C>T (n.319-37C>T)
c.703-37C>T (n.703-37C>T)
c.454-37C>T (n.454-37C>T)
c.334-37C>T (n.334-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920789G>CCA2688116812YWHAZc.679-37C>G (n.679-37C>G)
c.448-37C>G (n.448-37C>G)
c.319-37C>G (n.319-37C>G)
c.703-37C>G (n.703-37C>G)
c.454-37C>G (n.454-37C>G)
c.334-37C>G (n.334-37C>G)
 gnomAD v4
8g.100920789G=CA1806089052YWHAZc.679-37C= (n.679-37C=)
c.448-37C= (n.448-37C=)
c.319-37C= (n.319-37C=)
c.703-37C= (n.703-37C=)
c.454-37C= (n.454-37C=)
c.334-37C= (n.334-37C=)
8g.100920789G>TCA2688116813YWHAZc.679-37C>A (n.679-37C>A)
c.448-37C>A (n.448-37C>A)
c.319-37C>A (n.319-37C>A)
c.703-37C>A (n.703-37C>A)
c.454-37C>A (n.454-37C>A)
c.334-37C>A (n.334-37C>A)
 gnomAD v4
8g.100920789_100920790delinsGTCA1806089053YWHAZc.679-38_679-37delinsAC (n.679-38_679-37delinsAC)
c.448-38_448-37delinsAC (n.448-38_448-37delinsAC)
c.319-38_319-37delinsAC (n.319-38_319-37delinsAC)
c.703-38_703-37delinsAC (n.703-38_703-37delinsAC)
c.454-38_454-37delinsAC (n.454-38_454-37delinsAC)
c.334-38_334-37delinsAC (n.334-38_334-37delinsAC)
8g.100920790delCA584007079YWHAZc.679-38del (n.679-38del)
c.448-38del (n.448-38del)
c.319-38del (n.319-38del)
c.703-38del (n.703-38del)
c.454-38del (n.454-38del)
c.334-38del (n.334-38del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920790T>ACA1117189934YWHAZc.679-38A>T (n.679-38A>T)
c.448-38A>T (n.448-38A>T)
c.319-38A>T (n.319-38A>T)
c.703-38A>T (n.703-38A>T)
c.454-38A>T (n.454-38A>T)
c.334-38A>T (n.334-38A>T)
 gnomAD v3 gnomAD v4
8g.100920790T>CCA2688116814YWHAZc.679-38A>G (n.679-38A>G)
c.448-38A>G (n.448-38A>G)
c.319-38A>G (n.319-38A>G)
c.703-38A>G (n.703-38A>G)
c.454-38A>G (n.454-38A>G)
c.334-38A>G (n.334-38A>G)
 gnomAD v4
8g.100920790T>GCA4829796YWHAZc.679-38A>C (n.679-38A>C)
c.448-38A>C (n.448-38A>C)
c.319-38A>C (n.319-38A>C)
c.703-38A>C (n.703-38A>C)
c.454-38A>C (n.454-38A>C)
c.334-38A>C (n.334-38A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920790T=CA1806089054YWHAZc.679-38A= (n.679-38A=)
c.448-38A= (n.448-38A=)
c.319-38A= (n.319-38A=)
c.703-38A= (n.703-38A=)
c.454-38A= (n.454-38A=)
c.334-38A= (n.334-38A=)
8g.100920790_100920791insTCTTGGGGGGGGCA2688116816YWHAZc.679-39_679-38insCCCCCCCCAAGA (n.679-39_679-38insCCCCCCCCAAGA)
c.448-39_448-38insCCCCCCCCAAGA (n.448-39_448-38insCCCCCCCCAAGA)
c.319-39_319-38insCCCCCCCCAAGA (n.319-39_319-38insCCCCCCCCAAGA)
c.703-39_703-38insCCCCCCCCAAGA (n.703-39_703-38insCCCCCCCCAAGA)
c.454-39_454-38insCCCCCCCCAAGA (n.454-39_454-38insCCCCCCCCAAGA)
c.334-39_334-38insCCCCCCCCAAGA (n.334-39_334-38insCCCCCCCCAAGA)
 gnomAD v4
8g.100920791G>ACA2579219760YWHAZc.679-39C>T (n.679-39C>T)
c.448-39C>T (n.448-39C>T)
c.319-39C>T (n.319-39C>T)
c.703-39C>T (n.703-39C>T)
c.454-39C>T (n.454-39C>T)
c.334-39C>T (n.334-39C>T)
 gnomAD v4
8g.100920791G=CA1806089055YWHAZc.679-39C= (n.679-39C=)
c.448-39C= (n.448-39C=)
c.319-39C= (n.319-39C=)
c.703-39C= (n.703-39C=)
c.454-39C= (n.454-39C=)
c.334-39C= (n.334-39C=)
8g.100920791G>TCA584007080YWHAZc.679-39C>A (n.679-39C>A)
c.448-39C>A (n.448-39C>A)
c.319-39C>A (n.319-39C>A)
c.703-39C>A (n.703-39C>A)
c.454-39C>A (n.454-39C>A)
c.334-39C>A (n.334-39C>A)
 dbSNP gnomAD v2 gnomAD v4
8g.100920793delCA2688116815YWHAZc.679-39del (n.679-39del)
c.448-39del (n.448-39del)
c.319-39del (n.319-39del)
c.703-39del (n.703-39del)
c.454-39del (n.454-39del)
c.334-39del (n.334-39del)
 gnomAD v4
8g.100920792G>ACA2688116817YWHAZc.679-40C>T (n.679-40C>T)
c.448-40C>T (n.448-40C>T)
c.319-40C>T (n.319-40C>T)
c.703-40C>T (n.703-40C>T)
c.454-40C>T (n.454-40C>T)
c.334-40C>T (n.334-40C>T)
 gnomAD v4
8g.100920792G>TCA2579219761YWHAZc.679-40C>A (n.679-40C>A)
c.448-40C>A (n.448-40C>A)
c.319-40C>A (n.319-40C>A)
c.703-40C>A (n.703-40C>A)
c.454-40C>A (n.454-40C>A)
c.334-40C>A (n.334-40C>A)
 gnomAD v4
8g.100920793G>ACA4829797YWHAZc.679-41C>T (n.679-41C>T)
c.448-41C>T (n.448-41C>T)
c.319-41C>T (n.319-41C>T)
c.703-41C>T (n.703-41C>T)
c.454-41C>T (n.454-41C>T)
c.334-41C>T (n.334-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920793G=CA1806089056YWHAZc.679-41C= (n.679-41C=)
c.448-41C= (n.448-41C=)
c.319-41C= (n.319-41C=)
c.703-41C= (n.703-41C=)
c.454-41C= (n.454-41C=)
c.334-41C= (n.334-41C=)
8g.100920793G>TCA2579219763YWHAZc.679-41C>A (n.679-41C>A)
c.448-41C>A (n.448-41C>A)
c.319-41C>A (n.319-41C>A)
c.703-41C>A (n.703-41C>A)
c.454-41C>A (n.454-41C>A)
c.334-41C>A (n.334-41C>A)
 gnomAD v4
8g.100920794_100920796delCA2579219762YWHAZc.679-43_679-41del (n.679-43_679-41del)
c.448-43_448-41del (n.448-43_448-41del)
c.319-43_319-41del (n.319-43_319-41del)
c.703-43_703-41del (n.703-43_703-41del)
c.454-43_454-41del (n.454-43_454-41del)
c.334-43_334-41del (n.334-43_334-41del)
8g.100920794delCA1117189941YWHAZc.679-42del (n.679-42del)
c.448-42del (n.448-42del)
c.319-42del (n.319-42del)
c.703-42del (n.703-42del)
c.454-42del (n.454-42del)
c.334-42del (n.334-42del)
 gnomAD v3 gnomAD v4
8g.100920794A=CA1806089057YWHAZc.679-42T= (n.679-42T=)
c.448-42T= (n.448-42T=)
c.319-42T= (n.319-42T=)
c.703-42T= (n.703-42T=)
c.454-42T= (n.454-42T=)
c.334-42T= (n.334-42T=)
8g.100920794A>CCA584007081YWHAZc.679-42T>G (n.679-42T>G)
c.448-42T>G (n.448-42T>G)
c.319-42T>G (n.319-42T>G)
c.703-42T>G (n.703-42T>G)
c.454-42T>G (n.454-42T>G)
c.334-42T>G (n.334-42T>G)
 gnomAD v2 gnomAD v3 gnomAD v4
8g.100920794A>GCA4829798YWHAZc.679-42T>C (n.679-42T>C)
c.448-42T>C (n.448-42T>C)
c.319-42T>C (n.319-42T>C)
c.703-42T>C (n.703-42T>C)
c.454-42T>C (n.454-42T>C)
c.334-42T>C (n.334-42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920794A>TCA2579219764YWHAZc.679-42T>A (n.679-42T>A)
c.448-42T>A (n.448-42T>A)
c.319-42T>A (n.319-42T>A)
c.703-42T>A (n.703-42T>A)
c.454-42T>A (n.454-42T>A)
c.334-42T>A (n.334-42T>A)
 gnomAD v4
8g.100920794_100920795insAACA2562033626YWHAZc.679-42_679-41insTT (n.679-42_679-41insTT)
c.448-42_448-41insTT (n.448-42_448-41insTT)
c.319-42_319-41insTT (n.319-42_319-41insTT)
c.703-42_703-41insTT (n.703-42_703-41insTT)
c.454-42_454-41insTT (n.454-42_454-41insTT)
c.334-42_334-41insTT (n.334-42_334-41insTT)
8g.100920794dupCA462194504YWHAZc.679-42dup (n.679-42dup)
c.448-42dup (n.448-42dup)
c.319-42dup (n.319-42dup)
c.703-42dup (n.703-42dup)
c.454-42dup (n.454-42dup)
c.334-42dup (n.334-42dup)
 dbSNP gnomAD v3 gnomAD v4
8g.100920794_100920795delCA2554997699YWHAZc.679-43_679-42del (n.679-43_679-42del)
c.448-43_448-42del (n.448-43_448-42del)
c.319-43_319-42del (n.319-43_319-42del)
c.703-43_703-42del (n.703-43_703-42del)
c.454-43_454-42del (n.454-43_454-42del)
c.334-43_334-42del (n.334-43_334-42del)
 gnomAD v4
8g.100920794_100920795delinsATCA1806089059YWHAZc.679-43_679-42delinsAT (n.679-43_679-42delinsAT)
c.448-43_448-42delinsAT (n.448-43_448-42delinsAT)
c.319-43_319-42delinsAT (n.319-43_319-42delinsAT)
c.703-43_703-42delinsAT (n.703-43_703-42delinsAT)
c.454-43_454-42delinsAT (n.454-43_454-42delinsAT)
c.334-43_334-42delinsAT (n.334-43_334-42delinsAT)
8g.100920794_100920796delinsATGCA1806089058YWHAZc.679-44_679-42delinsCAT (n.679-44_679-42delinsCAT)
c.448-44_448-42delinsCAT (n.448-44_448-42delinsCAT)
c.319-44_319-42delinsCAT (n.319-44_319-42delinsCAT)
c.703-44_703-42delinsCAT (n.703-44_703-42delinsCAT)
c.454-44_454-42delinsCAT (n.454-44_454-42delinsCAT)
c.334-44_334-42delinsCAT (n.334-44_334-42delinsCAT)
8g.100920794_100920795insGCA1117189956YWHAZc.679-43_679-42insC (n.679-43_679-42insC)
c.448-43_448-42insC (n.448-43_448-42insC)
c.319-43_319-42insC (n.319-43_319-42insC)
c.703-43_703-42insC (n.703-43_703-42insC)
c.454-43_454-42insC (n.454-43_454-42insC)
c.334-43_334-42insC (n.334-43_334-42insC)
 dbSNP gnomAD v3 gnomAD v4
8g.100920794_100920795insAGCA1806089063YWHAZc.679-43_679-42insCT (n.679-43_679-42insCT)
c.448-43_448-42insCT (n.448-43_448-42insCT)
c.319-43_319-42insCT (n.319-43_319-42insCT)
c.703-43_703-42insCT (n.703-43_703-42insCT)
c.454-43_454-42insCT (n.454-43_454-42insCT)
c.334-43_334-42insCT (n.334-43_334-42insCT)
 dbSNP
8g.100920794_100920795insATCA1806089064YWHAZc.679-43_679-42insAT (n.679-43_679-42insAT)
c.448-43_448-42insAT (n.448-43_448-42insAT)
c.319-43_319-42insAT (n.319-43_319-42insAT)
c.703-43_703-42insAT (n.703-43_703-42insAT)
c.454-43_454-42insAT (n.454-43_454-42insAT)
c.334-43_334-42insAT (n.334-43_334-42insAT)
 dbSNP
8g.100920794_100920795insGGCA2602680050YWHAZc.679-43_679-42insCC (n.679-43_679-42insCC)
c.448-43_448-42insCC (n.448-43_448-42insCC)
c.319-43_319-42insCC (n.319-43_319-42insCC)
c.703-43_703-42insCC (n.703-43_703-42insCC)
c.454-43_454-42insCC (n.454-43_454-42insCC)
c.334-43_334-42insCC (n.334-43_334-42insCC)
 gnomAD v3 gnomAD v4
8g.100920794_100920795insGGGCA1117189948YWHAZc.679-43_679-42insCCC (n.679-43_679-42insCCC)
c.448-43_448-42insCCC (n.448-43_448-42insCCC)
c.319-43_319-42insCCC (n.319-43_319-42insCCC)
c.703-43_703-42insCCC (n.703-43_703-42insCCC)
c.454-43_454-42insCCC (n.454-43_454-42insCCC)
c.334-43_334-42insCCC (n.334-43_334-42insCCC)
 dbSNP gnomAD v3 gnomAD v4
8g.100920794_100920795insGGGGCA2527129570YWHAZc.679-43_679-42insCCCC (n.679-43_679-42insCCCC)
c.448-43_448-42insCCCC (n.448-43_448-42insCCCC)
c.319-43_319-42insCCCC (n.319-43_319-42insCCCC)
c.703-43_703-42insCCCC (n.703-43_703-42insCCCC)
c.454-43_454-42insCCCC (n.454-43_454-42insCCCC)
c.334-43_334-42insCCCC (n.334-43_334-42insCCCC)
 dbSNP
8g.100920794_100920795insGGGGGCA1117189955YWHAZc.679-43_679-42insCCCCC (n.679-43_679-42insCCCCC)
c.448-43_448-42insCCCCC (n.448-43_448-42insCCCCC)
c.319-43_319-42insCCCCC (n.319-43_319-42insCCCCC)
c.703-43_703-42insCCCCC (n.703-43_703-42insCCCCC)
c.454-43_454-42insCCCCC (n.454-43_454-42insCCCCC)
c.334-43_334-42insCCCCC (n.334-43_334-42insCCCCC)
 dbSNP gnomAD v3 gnomAD v4
8g.100920794_100920795insGGGGGGCA2688116819YWHAZc.679-43_679-42insCCCCCC (n.679-43_679-42insCCCCCC)
c.448-43_448-42insCCCCCC (n.448-43_448-42insCCCCCC)
c.319-43_319-42insCCCCCC (n.319-43_319-42insCCCCCC)
c.703-43_703-42insCCCCCC (n.703-43_703-42insCCCCCC)
c.454-43_454-42insCCCCCC (n.454-43_454-42insCCCCCC)
c.334-43_334-42insCCCCCC (n.334-43_334-42insCCCCCC)
 gnomAD v4
8g.100920794_100920795insGGGGGGGGGGGGCA2781509270YWHAZc.679-43_679-42insCCCCCCCCCCCC (n.679-43_679-42insCCCCCCCCCCCC)
c.448-43_448-42insCCCCCCCCCCCC (n.448-43_448-42insCCCCCCCCCCCC)
c.319-43_319-42insCCCCCCCCCCCC (n.319-43_319-42insCCCCCCCCCCCC)
c.703-43_703-42insCCCCCCCCCCCC (n.703-43_703-42insCCCCCCCCCCCC)
c.454-43_454-42insCCCCCCCCCCCC (n.454-43_454-42insCCCCCCCCCCCC)
c.334-43_334-42insCCCCCCCCCCCC (n.334-43_334-42insCCCCCCCCCCCC)
8g.100920795delCA844642226YWHAZc.679-43del (n.679-43del)
c.448-43del (n.448-43del)
c.319-43del (n.319-43del)
c.703-43del (n.703-43del)
c.454-43del (n.454-43del)
c.334-43del (n.334-43del)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795T>ACA844642217YWHAZc.679-43A>T (n.679-43A>T)
c.448-43A>T (n.448-43A>T)
c.319-43A>T (n.319-43A>T)
c.703-43A>T (n.703-43A>T)
c.454-43A>T (n.454-43A>T)
c.334-43A>T (n.334-43A>T)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795T>GCA584007082YWHAZc.679-43A>C (n.679-43A>C)
c.448-43A>C (n.448-43A>C)
c.319-43A>C (n.319-43A>C)
c.703-43A>C (n.703-43A>C)
c.454-43A>C (n.454-43A>C)
c.334-43A>C (n.334-43A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920795T=CA1806089060YWHAZc.679-43A= (n.679-43A=)
c.448-43A= (n.448-43A=)
c.319-43A= (n.319-43A=)
c.703-43A= (n.703-43A=)
c.454-43A= (n.454-43A=)
c.334-43A= (n.334-43A=)
8g.100920795_100920796insTTCA1806089062YWHAZc.679-43_679-42insAA (n.679-43_679-42insAA)
c.448-43_448-42insAA (n.448-43_448-42insAA)
c.319-43_319-42insAA (n.319-43_319-42insAA)
c.703-43_703-42insAA (n.703-43_703-42insAA)
c.454-43_454-42insAA (n.454-43_454-42insAA)
c.334-43_334-42insAA (n.334-43_334-42insAA)
 dbSNP
8g.100920795dupCA4829800YWHAZc.679-43dup (n.679-43dup)
c.448-43dup (n.448-43dup)
c.319-43dup (n.319-43dup)
c.703-43dup (n.703-43dup)
c.454-43dup (n.454-43dup)
c.334-43dup (n.334-43dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920795_100920796delCA584007083YWHAZc.679-44_679-43del (n.679-44_679-43del)
c.448-44_448-43del (n.448-44_448-43del)
c.319-44_319-43del (n.319-44_319-43del)
c.703-44_703-43del (n.703-44_703-43del)
c.454-44_454-43del (n.454-44_454-43del)
c.334-44_334-43del (n.334-44_334-43del)
 dbSNP gnomAD v2 gnomAD v4
8g.100920795_100920797delCA2688116818YWHAZc.679-45_679-43del (n.679-45_679-43del)
c.448-45_448-43del (n.448-45_448-43del)
c.319-45_319-43del (n.319-45_319-43del)
c.703-45_703-43del (n.703-45_703-43del)
c.454-45_454-43del (n.454-45_454-43del)
c.334-45_334-43del (n.334-45_334-43del)
 gnomAD v4
8g.100920795_100920797dupCA4829801YWHAZc.679-45_679-43dup (n.679-45_679-43dup)
c.448-45_448-43dup (n.448-45_448-43dup)
c.319-45_319-43dup (n.319-45_319-43dup)
c.703-45_703-43dup (n.703-45_703-43dup)
c.454-45_454-43dup (n.454-45_454-43dup)
c.334-45_334-43dup (n.334-45_334-43dup)
 dbSNP ExAC gnomAD v4
8g.100920795_100920799dupCA4829799YWHAZc.679-47_679-43dup (n.679-47_679-43dup)
c.448-47_448-43dup (n.448-47_448-43dup)
c.319-47_319-43dup (n.319-47_319-43dup)
c.703-47_703-43dup (n.703-47_703-43dup)
c.454-47_454-43dup (n.454-47_454-43dup)
c.334-47_334-43dup (n.334-47_334-43dup)
 dbSNP ExAC
8g.100920795_100920801delinsTGGGGGGCA1806089061YWHAZc.679-49_679-43delinsCCCCCCA (n.679-49_679-43delinsCCCCCCA)
c.448-49_448-43delinsCCCCCCA (n.448-49_448-43delinsCCCCCCA)
c.319-49_319-43delinsCCCCCCA (n.319-49_319-43delinsCCCCCCA)
c.703-49_703-43delinsCCCCCCA (n.703-49_703-43delinsCCCCCCA)
c.454-49_454-43delinsCCCCCCA (n.454-49_454-43delinsCCCCCCA)
c.334-49_334-43delinsCCCCCCA (n.334-49_334-43delinsCCCCCCA)
8g.100920795_100920796insCCA1117190015YWHAZc.679-44_679-43insG (n.679-44_679-43insG)
c.448-44_448-43insG (n.448-44_448-43insG)
c.319-44_319-43insG (n.319-44_319-43insG)
c.703-44_703-43insG (n.703-44_703-43insG)
c.454-44_454-43insG (n.454-44_454-43insG)
c.334-44_334-43insG (n.334-44_334-43insG)
 gnomAD v3 gnomAD v4
8g.100920795_100920796insCGCA2688116821YWHAZc.679-44_679-43insCG (n.679-44_679-43insCG)
c.448-44_448-43insCG (n.448-44_448-43insCG)
c.319-44_319-43insCG (n.319-44_319-43insCG)
c.703-44_703-43insCG (n.703-44_703-43insCG)
c.454-44_454-43insCG (n.454-44_454-43insCG)
c.334-44_334-43insCG (n.334-44_334-43insCG)
 gnomAD v4
8g.100920795_100920796insTGCA844642307YWHAZc.679-44_679-43insCA (n.679-44_679-43insCA)
c.448-44_448-43insCA (n.448-44_448-43insCA)
c.319-44_319-43insCA (n.319-44_319-43insCA)
c.703-44_703-43insCA (n.703-44_703-43insCA)
c.454-44_454-43insCA (n.454-44_454-43insCA)
c.334-44_334-43insCA (n.334-44_334-43insCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insCGGCA2688116822YWHAZc.679-44_679-43insCCG (n.679-44_679-43insCCG)
c.448-44_448-43insCCG (n.448-44_448-43insCCG)
c.319-44_319-43insCCG (n.319-44_319-43insCCG)
c.703-44_703-43insCCG (n.703-44_703-43insCCG)
c.454-44_454-43insCCG (n.454-44_454-43insCCG)
c.334-44_334-43insCCG (n.334-44_334-43insCCG)
 gnomAD v4
8g.100920795_100920796insTGGCA1117190038YWHAZc.679-44_679-43insCCA (n.679-44_679-43insCCA)
c.448-44_448-43insCCA (n.448-44_448-43insCCA)
c.319-44_319-43insCCA (n.319-44_319-43insCCA)
c.703-44_703-43insCCA (n.703-44_703-43insCCA)
c.454-44_454-43insCCA (n.454-44_454-43insCCA)
c.334-44_334-43insCCA (n.334-44_334-43insCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insCGGGCA844642321YWHAZc.679-44_679-43insCCCG (n.679-44_679-43insCCCG)
c.448-44_448-43insCCCG (n.448-44_448-43insCCCG)
c.319-44_319-43insCCCG (n.319-44_319-43insCCCG)
c.703-44_703-43insCCCG (n.703-44_703-43insCCCG)
c.454-44_454-43insCCCG (n.454-44_454-43insCCCG)
c.334-44_334-43insCCCG (n.334-44_334-43insCCCG)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGACA844642298YWHAZc.679-44_679-43insTCCA (n.679-44_679-43insTCCA)
c.448-44_448-43insTCCA (n.448-44_448-43insTCCA)
c.319-44_319-43insTCCA (n.319-44_319-43insTCCA)
c.703-44_703-43insTCCA (n.703-44_703-43insTCCA)
c.454-44_454-43insTCCA (n.454-44_454-43insTCCA)
c.334-44_334-43insTCCA (n.334-44_334-43insTCCA)
 dbSNP
8g.100920795_100920796insTGGGCA1117190014YWHAZc.679-44_679-43insCCCA (n.679-44_679-43insCCCA)
c.448-44_448-43insCCCA (n.448-44_448-43insCCCA)
c.319-44_319-43insCCCA (n.319-44_319-43insCCCA)
c.703-44_703-43insCCCA (n.703-44_703-43insCCCA)
c.454-44_454-43insCCCA (n.454-44_454-43insCCCA)
c.334-44_334-43insCCCA (n.334-44_334-43insCCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insCGGGGCA1117190017YWHAZc.679-44_679-43insCCCCG (n.679-44_679-43insCCCCG)
c.448-44_448-43insCCCCG (n.448-44_448-43insCCCCG)
c.319-44_319-43insCCCCG (n.319-44_319-43insCCCCG)
c.703-44_703-43insCCCCG (n.703-44_703-43insCCCCG)
c.454-44_454-43insCCCCG (n.454-44_454-43insCCCCG)
c.334-44_334-43insCCCCG (n.334-44_334-43insCCCCG)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGGCA844642293YWHAZc.679-44_679-43insCCCCA (n.679-44_679-43insCCCCA)
c.448-44_448-43insCCCCA (n.448-44_448-43insCCCCA)
c.319-44_319-43insCCCCA (n.319-44_319-43insCCCCA)
c.703-44_703-43insCCCCA (n.703-44_703-43insCCCCA)
c.454-44_454-43insCCCCA (n.454-44_454-43insCCCCA)
c.334-44_334-43insCCCCA (n.334-44_334-43insCCCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insCGGGGGCA1117190019YWHAZc.679-44_679-43insCCCCCG (n.679-44_679-43insCCCCCG)
c.448-44_448-43insCCCCCG (n.448-44_448-43insCCCCCG)
c.319-44_319-43insCCCCCG (n.319-44_319-43insCCCCCG)
c.703-44_703-43insCCCCCG (n.703-44_703-43insCCCCCG)
c.454-44_454-43insCCCCCG (n.454-44_454-43insCCCCCG)
c.334-44_334-43insCCCCCG (n.334-44_334-43insCCCCCG)
 gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGGGCA844642285YWHAZc.679-44_679-43insCCCCCA (n.679-44_679-43insCCCCCA)
c.448-44_448-43insCCCCCA (n.448-44_448-43insCCCCCA)
c.319-44_319-43insCCCCCA (n.319-44_319-43insCCCCCA)
c.703-44_703-43insCCCCCA (n.703-44_703-43insCCCCCA)
c.454-44_454-43insCCCCCA (n.454-44_454-43insCCCCCA)
c.334-44_334-43insCCCCCA (n.334-44_334-43insCCCCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insCGGGGGGCA2688116823YWHAZc.679-44_679-43insCCCCCCG (n.679-44_679-43insCCCCCCG)
c.448-44_448-43insCCCCCCG (n.448-44_448-43insCCCCCCG)
c.319-44_319-43insCCCCCCG (n.319-44_319-43insCCCCCCG)
c.703-44_703-43insCCCCCCG (n.703-44_703-43insCCCCCCG)
c.454-44_454-43insCCCCCCG (n.454-44_454-43insCCCCCCG)
c.334-44_334-43insCCCCCCG (n.334-44_334-43insCCCCCCG)
 gnomAD v4
8g.100920795_100920796insTGGGGCGCA1806089074YWHAZc.679-44_679-43insCGCCCCA (n.679-44_679-43insCGCCCCA)
c.448-44_448-43insCGCCCCA (n.448-44_448-43insCGCCCCA)
c.319-44_319-43insCGCCCCA (n.319-44_319-43insCGCCCCA)
c.703-44_703-43insCGCCCCA (n.703-44_703-43insCGCCCCA)
c.454-44_454-43insCGCCCCA (n.454-44_454-43insCGCCCCA)
c.334-44_334-43insCGCCCCA (n.334-44_334-43insCGCCCCA)
 dbSNP
8g.100920795_100920796insTGGGGGGCA844642267YWHAZc.679-44_679-43insCCCCCCA (n.679-44_679-43insCCCCCCA)
c.448-44_448-43insCCCCCCA (n.448-44_448-43insCCCCCCA)
c.319-44_319-43insCCCCCCA (n.319-44_319-43insCCCCCCA)
c.703-44_703-43insCCCCCCA (n.703-44_703-43insCCCCCCA)
c.454-44_454-43insCCCCCCA (n.454-44_454-43insCCCCCCA)
c.334-44_334-43insCCCCCCA (n.334-44_334-43insCCCCCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insCGGGGGGGCA2688116824YWHAZc.679-44_679-43insCCCCCCCG (n.679-44_679-43insCCCCCCCG)
c.448-44_448-43insCCCCCCCG (n.448-44_448-43insCCCCCCCG)
c.319-44_319-43insCCCCCCCG (n.319-44_319-43insCCCCCCCG)
c.703-44_703-43insCCCCCCCG (n.703-44_703-43insCCCCCCCG)
c.454-44_454-43insCCCCCCCG (n.454-44_454-43insCCCCCCCG)
c.334-44_334-43insCCCCCCCG (n.334-44_334-43insCCCCCCCG)
 gnomAD v4
8g.100920795_100920796insTGGAGGGGCA2781509278YWHAZc.679-44_679-43insCCCCTCCA (n.679-44_679-43insCCCCTCCA)
c.448-44_448-43insCCCCTCCA (n.448-44_448-43insCCCCTCCA)
c.319-44_319-43insCCCCTCCA (n.319-44_319-43insCCCCTCCA)
c.703-44_703-43insCCCCTCCA (n.703-44_703-43insCCCCTCCA)
c.454-44_454-43insCCCCTCCA (n.454-44_454-43insCCCCTCCA)
c.334-44_334-43insCCCCTCCA (n.334-44_334-43insCCCCTCCA)
8g.100920795_100920796insTGGGGGGGCA1117189994YWHAZc.679-44_679-43insCCCCCCCA (n.679-44_679-43insCCCCCCCA)
c.448-44_448-43insCCCCCCCA (n.448-44_448-43insCCCCCCCA)
c.319-44_319-43insCCCCCCCA (n.319-44_319-43insCCCCCCCA)
c.703-44_703-43insCCCCCCCA (n.703-44_703-43insCCCCCCCA)
c.454-44_454-43insCCCCCCCA (n.454-44_454-43insCCCCCCCA)
c.334-44_334-43insCCCCCCCA (n.334-44_334-43insCCCCCCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGTGGGCA1806089065YWHAZc.679-44_679-43insCCCACCCA (n.679-44_679-43insCCCACCCA)
c.448-44_448-43insCCCACCCA (n.448-44_448-43insCCCACCCA)
c.319-44_319-43insCCCACCCA (n.319-44_319-43insCCCACCCA)
c.703-44_703-43insCCCACCCA (n.703-44_703-43insCCCACCCA)
c.454-44_454-43insCCCACCCA (n.454-44_454-43insCCCACCCA)
c.334-44_334-43insCCCACCCA (n.334-44_334-43insCCCACCCA)
 dbSNP
8g.100920795_100920796insTGGGGGGGGCA1117189996YWHAZc.679-44_679-43insCCCCCCCCA (n.679-44_679-43insCCCCCCCCA)
c.448-44_448-43insCCCCCCCCA (n.448-44_448-43insCCCCCCCCA)
c.319-44_319-43insCCCCCCCCA (n.319-44_319-43insCCCCCCCCA)
c.703-44_703-43insCCCCCCCCA (n.703-44_703-43insCCCCCCCCA)
c.454-44_454-43insCCCCCCCCA (n.454-44_454-43insCCCCCCCCA)
c.334-44_334-43insCCCCCCCCA (n.334-44_334-43insCCCCCCCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGAGGGGGGCA2781509280YWHAZc.679-44_679-43insCCCCCCTCCA (n.679-44_679-43insCCCCCCTCCA)
c.448-44_448-43insCCCCCCTCCA (n.448-44_448-43insCCCCCCTCCA)
c.319-44_319-43insCCCCCCTCCA (n.319-44_319-43insCCCCCCTCCA)
c.703-44_703-43insCCCCCCTCCA (n.703-44_703-43insCCCCCCTCCA)
c.454-44_454-43insCCCCCCTCCA (n.454-44_454-43insCCCCCCTCCA)
c.334-44_334-43insCCCCCCTCCA (n.334-44_334-43insCCCCCCTCCA)
8g.100920795_100920796insTGGGGGGGGGCA1117189998YWHAZc.679-44_679-43insCCCCCCCCCA (n.679-44_679-43insCCCCCCCCCA)
c.448-44_448-43insCCCCCCCCCA (n.448-44_448-43insCCCCCCCCCA)
c.319-44_319-43insCCCCCCCCCA (n.319-44_319-43insCCCCCCCCCA)
c.703-44_703-43insCCCCCCCCCA (n.703-44_703-43insCCCCCCCCCA)
c.454-44_454-43insCCCCCCCCCA (n.454-44_454-43insCCCCCCCCCA)
c.334-44_334-43insCCCCCCCCCA (n.334-44_334-43insCCCCCCCCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGAGGGGGGGCA1117190049YWHAZc.679-44_679-43insCCCCCCCTCCA (n.679-44_679-43insCCCCCCCTCCA)
c.448-44_448-43insCCCCCCCTCCA (n.448-44_448-43insCCCCCCCTCCA)
c.319-44_319-43insCCCCCCCTCCA (n.319-44_319-43insCCCCCCCTCCA)
c.703-44_703-43insCCCCCCCTCCA (n.703-44_703-43insCCCCCCCTCCA)
c.454-44_454-43insCCCCCCCTCCA (n.454-44_454-43insCCCCCCCTCCA)
c.334-44_334-43insCCCCCCCTCCA (n.334-44_334-43insCCCCCCCTCCA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGGGGGGGGCA1117190002YWHAZc.679-44_679-43insCCCCCCCCCCA (n.679-44_679-43insCCCCCCCCCCA)
c.448-44_448-43insCCCCCCCCCCA (n.448-44_448-43insCCCCCCCCCCA)
c.319-44_319-43insCCCCCCCCCCA (n.319-44_319-43insCCCCCCCCCCA)
c.703-44_703-43insCCCCCCCCCCA (n.703-44_703-43insCCCCCCCCCCA)
c.454-44_454-43insCCCCCCCCCCA (n.454-44_454-43insCCCCCCCCCCA)
c.334-44_334-43insCCCCCCCCCCA (n.334-44_334-43insCCCCCCCCCCA)
 gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGGGGGGGGGCA1117190006YWHAZc.679-44_679-43insCCCCCCCCCCCA (n.679-44_679-43insCCCCCCCCCCCA)
c.448-44_448-43insCCCCCCCCCCCA (n.448-44_448-43insCCCCCCCCCCCA)
c.319-44_319-43insCCCCCCCCCCCA (n.319-44_319-43insCCCCCCCCCCCA)
c.703-44_703-43insCCCCCCCCCCCA (n.703-44_703-43insCCCCCCCCCCCA)
c.454-44_454-43insCCCCCCCCCCCA (n.454-44_454-43insCCCCCCCCCCCA)
c.334-44_334-43insCCCCCCCCCCCA (n.334-44_334-43insCCCCCCCCCCCA)
 gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGGGGGGGGGGCA1117190007YWHAZc.679-44_679-43insCCCCCCCCCCCCA (n.679-44_679-43insCCCCCCCCCCCCA)
c.448-44_448-43insCCCCCCCCCCCCA (n.448-44_448-43insCCCCCCCCCCCCA)
c.319-44_319-43insCCCCCCCCCCCCA (n.319-44_319-43insCCCCCCCCCCCCA)
c.703-44_703-43insCCCCCCCCCCCCA (n.703-44_703-43insCCCCCCCCCCCCA)
c.454-44_454-43insCCCCCCCCCCCCA (n.454-44_454-43insCCCCCCCCCCCCA)
c.334-44_334-43insCCCCCCCCCCCCA (n.334-44_334-43insCCCCCCCCCCCCA)
 gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGGGGGGGGGGGGGGCA1117190009YWHAZc.679-44_679-43insCCCCCCCCCCCCCCCCA (n.679-44_679-43insCCCCCCCCCCCCCCCCA)
c.448-44_448-43insCCCCCCCCCCCCCCCCA (n.448-44_448-43insCCCCCCCCCCCCCCCCA)
c.319-44_319-43insCCCCCCCCCCCCCCCCA (n.319-44_319-43insCCCCCCCCCCCCCCCCA)
c.703-44_703-43insCCCCCCCCCCCCCCCCA (n.703-44_703-43insCCCCCCCCCCCCCCCCA)
c.454-44_454-43insCCCCCCCCCCCCCCCCA (n.454-44_454-43insCCCCCCCCCCCCCCCCA)
c.334-44_334-43insCCCCCCCCCCCCCCCCA (n.334-44_334-43insCCCCCCCCCCCCCCCCA)
 gnomAD v3 gnomAD v4
8g.100920795_100920796insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA1117190010YWHAZc.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA (n.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA)
c.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA (n.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA)
c.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA (n.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA)
c.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA (n.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA)
c.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA (n.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA)
c.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA (n.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA)
 gnomAD v3 gnomAD v4
8g.100920796G>ACA1806089072YWHAZc.679-44C>T (n.679-44C>T)
c.448-44C>T (n.448-44C>T)
c.319-44C>T (n.319-44C>T)
c.703-44C>T (n.703-44C>T)
c.454-44C>T (n.454-44C>T)
c.334-44C>T (n.334-44C>T)
 dbSNP gnomAD v4
8g.100920796G>CCA4829808YWHAZc.679-44C>G (n.679-44C>G)
c.448-44C>G (n.448-44C>G)
c.319-44C>G (n.319-44C>G)
c.703-44C>G (n.703-44C>G)
c.454-44C>G (n.454-44C>G)
c.334-44C>G (n.334-44C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920796G=CA1806089071YWHAZc.679-44C= (n.679-44C=)
c.448-44C= (n.448-44C=)
c.319-44C= (n.319-44C=)
c.703-44C= (n.703-44C=)
c.454-44C= (n.454-44C=)
c.334-44C= (n.334-44C=)
8g.100920796G>TCA4829809YWHAZc.679-44C>A (n.679-44C>A)
c.448-44C>A (n.448-44C>A)
c.319-44C>A (n.319-44C>A)
c.703-44C>A (n.703-44C>A)
c.454-44C>A (n.454-44C>A)
c.334-44C>A (n.334-44C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920796_100920797insAGCA2688116825YWHAZc.679-44_679-43insTC (n.679-44_679-43insTC)
c.448-44_448-43insTC (n.448-44_448-43insTC)
c.319-44_319-43insTC (n.319-44_319-43insTC)
c.703-44_703-43insTC (n.703-44_703-43insTC)
c.454-44_454-43insTC (n.454-44_454-43insTC)
c.334-44_334-43insTC (n.334-44_334-43insTC)
 gnomAD v4
8g.100920796_100920797insCGCA2602680051YWHAZc.679-44_679-43insGC (n.679-44_679-43insGC)
c.448-44_448-43insGC (n.448-44_448-43insGC)
c.319-44_319-43insGC (n.319-44_319-43insGC)
c.703-44_703-43insGC (n.703-44_703-43insGC)
c.454-44_454-43insGC (n.454-44_454-43insGC)
c.334-44_334-43insGC (n.334-44_334-43insGC)
 gnomAD v3 gnomAD v4
8g.100920796_100920797insAGGCA1806089073YWHAZc.679-44_679-43insCTC (n.679-44_679-43insCTC)
c.448-44_448-43insCTC (n.448-44_448-43insCTC)
c.319-44_319-43insCTC (n.319-44_319-43insCTC)
c.703-44_703-43insCTC (n.703-44_703-43insCTC)
c.454-44_454-43insCTC (n.454-44_454-43insCTC)
c.334-44_334-43insCTC (n.334-44_334-43insCTC)
 dbSNP
8g.100920796_100920797insTGGGCA1806089068YWHAZc.679-44_679-43insCCAC (n.679-44_679-43insCCAC)
c.448-44_448-43insCCAC (n.448-44_448-43insCCAC)
c.319-44_319-43insCCAC (n.319-44_319-43insCCAC)
c.703-44_703-43insCCAC (n.703-44_703-43insCCAC)
c.454-44_454-43insCCAC (n.454-44_454-43insCCAC)
c.334-44_334-43insCCAC (n.334-44_334-43insCCAC)
 dbSNP
8g.100920797_100920798insAGGCA1806089066YWHAZc.679-44_679-43insTCC (n.679-44_679-43insTCC)
c.448-44_448-43insTCC (n.448-44_448-43insTCC)
c.319-44_319-43insTCC (n.319-44_319-43insTCC)
c.703-44_703-43insTCC (n.703-44_703-43insTCC)
c.454-44_454-43insTCC (n.454-44_454-43insTCC)
c.334-44_334-43insTCC (n.334-44_334-43insTCC)
 dbSNP gnomAD v3 gnomAD v4
8g.100920797_100920798insCGGCA1806089067YWHAZc.679-44_679-43insGCC (n.679-44_679-43insGCC)
c.448-44_448-43insGCC (n.448-44_448-43insGCC)
c.319-44_319-43insGCC (n.319-44_319-43insGCC)
c.703-44_703-43insGCC (n.703-44_703-43insGCC)
c.454-44_454-43insGCC (n.454-44_454-43insGCC)
c.334-44_334-43insGCC (n.334-44_334-43insGCC)
 dbSNP
8g.100920797_100920798insTGGGCA844642317YWHAZc.679-44_679-43insCACC (n.679-44_679-43insCACC)
c.448-44_448-43insCACC (n.448-44_448-43insCACC)
c.319-44_319-43insCACC (n.319-44_319-43insCACC)
c.703-44_703-43insCACC (n.703-44_703-43insCACC)
c.454-44_454-43insCACC (n.454-44_454-43insCACC)
c.334-44_334-43insCACC (n.334-44_334-43insCACC)
 dbSNP
8g.100920797_100920798insCGGGGCA2506607266YWHAZc.679-44_679-43insCCGCC (n.679-44_679-43insCCGCC)
c.448-44_448-43insCCGCC (n.448-44_448-43insCCGCC)
c.319-44_319-43insCCGCC (n.319-44_319-43insCCGCC)
c.703-44_703-43insCCGCC (n.703-44_703-43insCCGCC)
c.454-44_454-43insCCGCC (n.454-44_454-43insCCGCC)
c.334-44_334-43insCCGCC (n.334-44_334-43insCCGCC)
8g.100920799_100920800insCGGGGCA1806089069YWHAZc.679-44_679-43insGCCCC (n.679-44_679-43insGCCCC)
c.448-44_448-43insGCCCC (n.448-44_448-43insGCCCC)
c.319-44_319-43insGCCCC (n.319-44_319-43insGCCCC)
c.703-44_703-43insGCCCC (n.703-44_703-43insGCCCC)
c.454-44_454-43insGCCCC (n.454-44_454-43insGCCCC)
c.334-44_334-43insGCCCC (n.334-44_334-43insGCCCC)
 dbSNP gnomAD v4
8g.100920800_100920801insAGGGGGCA1806089070YWHAZc.679-44_679-43insTCCCCC (n.679-44_679-43insTCCCCC)
c.448-44_448-43insTCCCCC (n.448-44_448-43insTCCCCC)
c.319-44_319-43insTCCCCC (n.319-44_319-43insTCCCCC)
c.703-44_703-43insTCCCCC (n.703-44_703-43insTCCCCC)
c.454-44_454-43insTCCCCC (n.454-44_454-43insTCCCCC)
c.334-44_334-43insTCCCCC (n.334-44_334-43insTCCCCC)
 dbSNP
8g.100920800_100920801insCGGGGGCA2781509279YWHAZc.679-44_679-43insGCCCCC (n.679-44_679-43insGCCCCC)
c.448-44_448-43insGCCCCC (n.448-44_448-43insGCCCCC)
c.319-44_319-43insGCCCCC (n.319-44_319-43insGCCCCC)
c.703-44_703-43insGCCCCC (n.703-44_703-43insGCCCCC)
c.454-44_454-43insGCCCCC (n.454-44_454-43insGCCCCC)
c.334-44_334-43insGCCCCC (n.334-44_334-43insGCCCCC)
8g.100920808_100920809insGGGGGGGGGGGGGGGGGGGCA2506607912YWHAZc.679-44_679-43insCCCCCCCCCCCCCCCCCCC (n.679-44_679-43insCCCCCCCCCCCCCCCCCCC)
c.448-44_448-43insCCCCCCCCCCCCCCCCCCC (n.448-44_448-43insCCCCCCCCCCCCCCCCCCC)
c.319-44_319-43insCCCCCCCCCCCCCCCCCCC (n.319-44_319-43insCCCCCCCCCCCCCCCCCCC)
c.703-44_703-43insCCCCCCCCCCCCCCCCCCC (n.703-44_703-43insCCCCCCCCCCCCCCCCCCC)
c.454-44_454-43insCCCCCCCCCCCCCCCCCCC (n.454-44_454-43insCCCCCCCCCCCCCCCCCCC)
c.334-44_334-43insCCCCCCCCCCCCCCCCCCC (n.334-44_334-43insCCCCCCCCCCCCCCCCCCC)
8g.100920808_100920809insGGGGGGGGGGGGGGGGGGGGGCA2602680052YWHAZc.679-44_679-43insCCCCCCCCCCCCCCCCCCCCC (n.679-44_679-43insCCCCCCCCCCCCCCCCCCCCC)
c.448-44_448-43insCCCCCCCCCCCCCCCCCCCCC (n.448-44_448-43insCCCCCCCCCCCCCCCCCCCCC)
c.319-44_319-43insCCCCCCCCCCCCCCCCCCCCC (n.319-44_319-43insCCCCCCCCCCCCCCCCCCCCC)
c.703-44_703-43insCCCCCCCCCCCCCCCCCCCCC (n.703-44_703-43insCCCCCCCCCCCCCCCCCCCCC)
c.454-44_454-43insCCCCCCCCCCCCCCCCCCCCC (n.454-44_454-43insCCCCCCCCCCCCCCCCCCCCC)
c.334-44_334-43insCCCCCCCCCCCCCCCCCCCCC (n.334-44_334-43insCCCCCCCCCCCCCCCCCCCCC)
 gnomAD v3
8g.100920808_100920809insGGGGGGGGGGGGGGGGGGGGGGCA2511947000YWHAZc.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCC (n.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCC)
c.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCC (n.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCC)
c.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCC (n.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCC)
c.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCC (n.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCC)
c.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCC (n.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCC)
c.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCC (n.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCC)
8g.100920808_100920809insGGGGGGGGGGGGGGGGGGGGGGGCA1117190032YWHAZc.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCCC (n.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCCC)
c.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCCC (n.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCCC)
c.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCCC (n.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCCC)
c.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCCC (n.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCCC)
c.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCCC (n.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCCC)
c.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCCC (n.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCCC)
 gnomAD v3 gnomAD v4
8g.100920808_100920809insGGGGGGGGGGGGGGGGGGGGGGGGGCA1117190035YWHAZc.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCCCCC (n.679-44_679-43insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCCCCC (n.448-44_448-43insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-44_319-43insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCCCCC (n.703-44_703-43insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCCCCC (n.454-44_454-43insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCCCCC (n.334-44_334-43insCCCCCCCCCCCCCCCCCCCCCCCCC)
 gnomAD v3 gnomAD v4
8g.100920808dupCA4829804YWHAZc.679-44dup (n.679-44dup)
c.448-44dup (n.448-44dup)
c.319-44dup (n.319-44dup)
c.703-44dup (n.703-44dup)
c.454-44dup (n.454-44dup)
c.334-44dup (n.334-44dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920807_100920808dupCA584007084YWHAZc.679-45_679-44dup (n.679-45_679-44dup)
c.448-45_448-44dup (n.448-45_448-44dup)
c.319-45_319-44dup (n.319-45_319-44dup)
c.703-45_703-44dup (n.703-45_703-44dup)
c.454-45_454-44dup (n.454-45_454-44dup)
c.334-45_334-44dup (n.334-45_334-44dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920806_100920808dupCA584007085YWHAZc.679-46_679-44dup (n.679-46_679-44dup)
c.448-46_448-44dup (n.448-46_448-44dup)
c.319-46_319-44dup (n.319-46_319-44dup)
c.703-46_703-44dup (n.703-46_703-44dup)
c.454-46_454-44dup (n.454-46_454-44dup)
c.334-46_334-44dup (n.334-46_334-44dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920805_100920808dupCA584007086YWHAZc.679-47_679-44dup (n.679-47_679-44dup)
c.448-47_448-44dup (n.448-47_448-44dup)
c.319-47_319-44dup (n.319-47_319-44dup)
c.703-47_703-44dup (n.703-47_703-44dup)
c.454-47_454-44dup (n.454-47_454-44dup)
c.334-47_334-44dup (n.334-47_334-44dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920804_100920808dupCA844642304YWHAZc.679-48_679-44dup (n.679-48_679-44dup)
c.448-48_448-44dup (n.448-48_448-44dup)
c.319-48_319-44dup (n.319-48_319-44dup)
c.703-48_703-44dup (n.703-48_703-44dup)
c.454-48_454-44dup (n.454-48_454-44dup)
c.334-48_334-44dup (n.334-48_334-44dup)
 dbSNP gnomAD v3 gnomAD v4
8g.100920803_100920808dupCA1117190053YWHAZc.679-49_679-44dup (n.679-49_679-44dup)
c.448-49_448-44dup (n.448-49_448-44dup)
c.319-49_319-44dup (n.319-49_319-44dup)
c.703-49_703-44dup (n.703-49_703-44dup)
c.454-49_454-44dup (n.454-49_454-44dup)
c.334-49_334-44dup (n.334-49_334-44dup)
 dbSNP gnomAD v3 gnomAD v4
8g.100920802_100920808dupCA1117190026YWHAZc.679-50_679-44dup (n.679-50_679-44dup)
c.448-50_448-44dup (n.448-50_448-44dup)
c.319-50_319-44dup (n.319-50_319-44dup)
c.703-50_703-44dup (n.703-50_703-44dup)
c.454-50_454-44dup (n.454-50_454-44dup)
c.334-50_334-44dup (n.334-50_334-44dup)
 dbSNP gnomAD v3 gnomAD v4
8g.100920801_100920808dupCA1117190031YWHAZc.679-51_679-44dup (n.679-51_679-44dup)
c.448-51_448-44dup (n.448-51_448-44dup)
c.319-51_319-44dup (n.319-51_319-44dup)
c.703-51_703-44dup (n.703-51_703-44dup)
c.454-51_454-44dup (n.454-51_454-44dup)
c.334-51_334-44dup (n.334-51_334-44dup)
 gnomAD v3 gnomAD v4
8g.100920800_100920808dupCA2688116826YWHAZc.679-52_679-44dup (n.679-52_679-44dup)
c.448-52_448-44dup (n.448-52_448-44dup)
c.319-52_319-44dup (n.319-52_319-44dup)
c.703-52_703-44dup (n.703-52_703-44dup)
c.454-52_454-44dup (n.454-52_454-44dup)
c.334-52_334-44dup (n.334-52_334-44dup)
 gnomAD v4
8g.100920799_100920808dupCA4829806YWHAZc.679-53_679-44dup (n.679-53_679-44dup)
c.448-53_448-44dup (n.448-53_448-44dup)
c.319-53_319-44dup (n.319-53_319-44dup)
c.703-53_703-44dup (n.703-53_703-44dup)
c.454-53_454-44dup (n.454-53_454-44dup)
c.334-53_334-44dup (n.334-53_334-44dup)
 dbSNP ExAC
8g.100920797_100920808dupCA2527139739YWHAZc.679-55_679-44dup (n.679-55_679-44dup)
c.448-55_448-44dup (n.448-55_448-44dup)
c.319-55_319-44dup (n.319-55_319-44dup)
c.703-55_703-44dup (n.703-55_703-44dup)
c.454-55_454-44dup (n.454-55_454-44dup)
c.334-55_334-44dup (n.334-55_334-44dup)
8g.100920808delCA4829802YWHAZc.679-44del (n.679-44del)
c.448-44del (n.448-44del)
c.319-44del (n.319-44del)
c.703-44del (n.703-44del)
c.454-44del (n.454-44del)
c.334-44del (n.334-44del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.100920807_100920808delCA4829803YWHAZc.679-45_679-44del (n.679-45_679-44del)
c.448-45_448-44del (n.448-45_448-44del)
c.319-45_319-44del (n.319-45_319-44del)
c.703-45_703-44del (n.703-45_703-44del)
c.454-45_454-44del (n.454-45_454-44del)
c.334-45_334-44del (n.334-45_334-44del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920806_100920808delCA4829805YWHAZc.679-46_679-44del (n.679-46_679-44del)
c.448-46_448-44del (n.448-46_448-44del)
c.319-46_319-44del (n.319-46_319-44del)
c.703-46_703-44del (n.703-46_703-44del)
c.454-46_454-44del (n.454-46_454-44del)
c.334-46_334-44del (n.334-46_334-44del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920805_100920808delCA844642350YWHAZc.679-47_679-44del (n.679-47_679-44del)
c.448-47_448-44del (n.448-47_448-44del)
c.319-47_319-44del (n.319-47_319-44del)
c.703-47_703-44del (n.703-47_703-44del)
c.454-47_454-44del (n.454-47_454-44del)
c.334-47_334-44del (n.334-47_334-44del)
 dbSNP gnomAD v3 gnomAD v4
8g.100920804_100920808delCA844642344YWHAZc.679-48_679-44del (n.679-48_679-44del)
c.448-48_448-44del (n.448-48_448-44del)
c.319-48_319-44del (n.319-48_319-44del)
c.703-48_703-44del (n.703-48_703-44del)
c.454-48_454-44del (n.454-48_454-44del)
c.334-48_334-44del (n.334-48_334-44del)
 dbSNP gnomAD v4
8g.100920803_100920808delCA4829807YWHAZc.679-49_679-44del (n.679-49_679-44del)
c.448-49_448-44del (n.448-49_448-44del)
c.319-49_319-44del (n.319-49_319-44del)
c.703-49_703-44del (n.703-49_703-44del)
c.454-49_454-44del (n.454-49_454-44del)
c.334-49_334-44del (n.334-49_334-44del)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.100920802_100920808delCA2579219766YWHAZc.679-50_679-44del (n.679-50_679-44del)
c.448-50_448-44del (n.448-50_448-44del)
c.319-50_319-44del (n.319-50_319-44del)
c.703-50_703-44del (n.703-50_703-44del)
c.454-50_454-44del (n.454-50_454-44del)
c.334-50_334-44del (n.334-50_334-44del)
 gnomAD v4
8g.100920801_100920808delCA2579219765YWHAZc.679-51_679-44del (n.679-51_679-44del)
c.448-51_448-44del (n.448-51_448-44del)
c.319-51_319-44del (n.319-51_319-44del)
c.703-51_703-44del (n.703-51_703-44del)
c.454-51_454-44del (n.454-51_454-44del)
c.334-51_334-44del (n.334-51_334-44del)
 gnomAD v4
8g.100920800_100920808delCA2688116820YWHAZc.679-52_679-44del (n.679-52_679-44del)
c.448-52_448-44del (n.448-52_448-44del)
c.319-52_319-44del (n.319-52_319-44del)
c.703-52_703-44del (n.703-52_703-44del)
c.454-52_454-44del (n.454-52_454-44del)
c.334-52_334-44del (n.334-52_334-44del)
 gnomAD v4
8g.100920796_100920797insCCA844642357YWHAZc.679-45_679-44insG (n.679-45_679-44insG)
c.448-45_448-44insG (n.448-45_448-44insG)
c.319-45_319-44insG (n.319-45_319-44insG)
c.703-45_703-44insG (n.703-45_703-44insG)
c.454-45_454-44insG (n.454-45_454-44insG)
c.334-45_334-44insG (n.334-45_334-44insG)
 dbSNP gnomAD v3 gnomAD v4
8g.100920796_100920797insTCA844642380YWHAZc.679-45_679-44insA (n.679-45_679-44insA)
c.448-45_448-44insA (n.448-45_448-44insA)
c.319-45_319-44insA (n.319-45_319-44insA)
c.703-45_703-44insA (n.703-45_703-44insA)
c.454-45_454-44insA (n.454-45_454-44insA)
c.334-45_334-44insA (n.334-45_334-44insA)
 dbSNP
8g.100920797G>ACA4829812YWHAZc.679-45C>T (n.679-45C>T)
c.448-45C>T (n.448-45C>T)
c.319-45C>T (n.319-45C>T)
c.703-45C>T (n.703-45C>T)
c.454-45C>T (n.454-45C>T)
c.334-45C>T (n.334-45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920797G>CCA584007089YWHAZc.679-45C>G (n.679-45C>G)
c.448-45C>G (n.448-45C>G)
c.319-45C>G (n.319-45C>G)
c.703-45C>G (n.703-45C>G)
c.454-45C>G (n.454-45C>G)
c.334-45C>G (n.334-45C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920797G=CA1806089075YWHAZc.679-45C= (n.679-45C=)
c.448-45C= (n.448-45C=)
c.319-45C= (n.319-45C=)
c.703-45C= (n.703-45C=)
c.454-45C= (n.454-45C=)
c.334-45C= (n.334-45C=)
8g.100920797G>TCA4829810YWHAZc.679-45C>A (n.679-45C>A)
c.448-45C>A (n.448-45C>A)
c.319-45C>A (n.319-45C>A)
c.703-45C>A (n.703-45C>A)
c.454-45C>A (n.454-45C>A)
c.334-45C>A (n.334-45C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920797_100920798insAGCA584007087YWHAZc.679-45_679-44insTC (n.679-45_679-44insTC)
c.448-45_448-44insTC (n.448-45_448-44insTC)
c.319-45_319-44insTC (n.319-45_319-44insTC)
c.703-45_703-44insTC (n.703-45_703-44insTC)
c.454-45_454-44insTC (n.454-45_454-44insTC)
c.334-45_334-44insTC (n.334-45_334-44insTC)
 dbSNP gnomAD v2
8g.100920797_100920798insCGCA844642372YWHAZc.679-45_679-44insGC (n.679-45_679-44insGC)
c.448-45_448-44insGC (n.448-45_448-44insGC)
c.319-45_319-44insGC (n.319-45_319-44insGC)
c.703-45_703-44insGC (n.703-45_703-44insGC)
c.454-45_454-44insGC (n.454-45_454-44insGC)
c.334-45_334-44insGC (n.334-45_334-44insGC)
 dbSNP gnomAD v4
8g.100920797_100920798insTGCA584007088YWHAZc.679-45_679-44insAC (n.679-45_679-44insAC)
c.448-45_448-44insAC (n.448-45_448-44insAC)
c.319-45_319-44insAC (n.319-45_319-44insAC)
c.703-45_703-44insAC (n.703-45_703-44insAC)
c.454-45_454-44insAC (n.454-45_454-44insAC)
c.334-45_334-44insAC (n.334-45_334-44insAC)
 gnomAD v2 gnomAD v4
8g.100920798_100920799insCGGCA2688116827YWHAZc.679-45_679-44insGCC (n.679-45_679-44insGCC)
c.448-45_448-44insGCC (n.448-45_448-44insGCC)
c.319-45_319-44insGCC (n.319-45_319-44insGCC)
c.703-45_703-44insGCC (n.703-45_703-44insGCC)
c.454-45_454-44insGCC (n.454-45_454-44insGCC)
c.334-45_334-44insGCC (n.334-45_334-44insGCC)
 gnomAD v4
8g.100920799_100920800insCGGGCA1806089076YWHAZc.679-45_679-44insGCCC (n.679-45_679-44insGCCC)
c.448-45_448-44insGCCC (n.448-45_448-44insGCCC)
c.319-45_319-44insGCCC (n.319-45_319-44insGCCC)
c.703-45_703-44insGCCC (n.703-45_703-44insGCCC)
c.454-45_454-44insGCCC (n.454-45_454-44insGCCC)
c.334-45_334-44insGCCC (n.334-45_334-44insGCCC)
 dbSNP
8g.100920801_100920802insAGGGGGCA2517476097YWHAZc.679-45_679-44insTCCCCC (n.679-45_679-44insTCCCCC)
c.448-45_448-44insTCCCCC (n.448-45_448-44insTCCCCC)
c.319-45_319-44insTCCCCC (n.319-45_319-44insTCCCCC)
c.703-45_703-44insTCCCCC (n.703-45_703-44insTCCCCC)
c.454-45_454-44insTCCCCC (n.454-45_454-44insTCCCCC)
c.334-45_334-44insTCCCCC (n.334-45_334-44insTCCCCC)
8g.100920797_100920798insCCA4829811YWHAZc.679-46_679-45insG (n.679-46_679-45insG)
c.448-46_448-45insG (n.448-46_448-45insG)
c.319-46_319-45insG (n.319-46_319-45insG)
c.703-46_703-45insG (n.703-46_703-45insG)
c.454-46_454-45insG (n.454-46_454-45insG)
c.334-46_334-45insG (n.334-46_334-45insG)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920797_100920798insTCA584007090YWHAZc.679-46_679-45insA (n.679-46_679-45insA)
c.448-46_448-45insA (n.448-46_448-45insA)
c.319-46_319-45insA (n.319-46_319-45insA)
c.703-46_703-45insA (n.703-46_703-45insA)
c.454-46_454-45insA (n.454-46_454-45insA)
c.334-46_334-45insA (n.334-46_334-45insA)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920798G>ACA2688116829YWHAZc.679-46C>T (n.679-46C>T)
c.448-46C>T (n.448-46C>T)
c.319-46C>T (n.319-46C>T)
c.703-46C>T (n.703-46C>T)
c.454-46C>T (n.454-46C>T)
c.334-46C>T (n.334-46C>T)
 gnomAD v4
8g.100920798G>CCA4829813YWHAZc.679-46C>G (n.679-46C>G)
c.448-46C>G (n.448-46C>G)
c.319-46C>G (n.319-46C>G)
c.703-46C>G (n.703-46C>G)
c.454-46C>G (n.454-46C>G)
c.334-46C>G (n.334-46C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920798G=CA1806089077YWHAZc.679-46C= (n.679-46C=)
c.448-46C= (n.448-46C=)
c.319-46C= (n.319-46C=)
c.703-46C= (n.703-46C=)
c.454-46C= (n.454-46C=)
c.334-46C= (n.334-46C=)
8g.100920798G>TCA4829814YWHAZc.679-46C>A (n.679-46C>A)
c.448-46C>A (n.448-46C>A)
c.319-46C>A (n.319-46C>A)
c.703-46C>A (n.703-46C>A)
c.454-46C>A (n.454-46C>A)
c.334-46C>A (n.334-46C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920798_100920799insAGCA2564030090YWHAZc.679-46_679-45insTC (n.679-46_679-45insTC)
c.448-46_448-45insTC (n.448-46_448-45insTC)
c.319-46_319-45insTC (n.319-46_319-45insTC)
c.703-46_703-45insTC (n.703-46_703-45insTC)
c.454-46_454-45insTC (n.454-46_454-45insTC)
c.334-46_334-45insTC (n.334-46_334-45insTC)
8g.100920798_100920799insCGCA462194505YWHAZc.679-46_679-45insGC (n.679-46_679-45insGC)
c.448-46_448-45insGC (n.448-46_448-45insGC)
c.319-46_319-45insGC (n.319-46_319-45insGC)
c.703-46_703-45insGC (n.703-46_703-45insGC)
c.454-46_454-45insGC (n.454-46_454-45insGC)
c.334-46_334-45insGC (n.334-46_334-45insGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920799_100920800insAGGCA2688116828YWHAZc.679-46_679-45insTCC (n.679-46_679-45insTCC)
c.448-46_448-45insTCC (n.448-46_448-45insTCC)
c.319-46_319-45insTCC (n.319-46_319-45insTCC)
c.703-46_703-45insTCC (n.703-46_703-45insTCC)
c.454-46_454-45insTCC (n.454-46_454-45insTCC)
c.334-46_334-45insTCC (n.334-46_334-45insTCC)
 gnomAD v4
8g.100920799_100920800insCGGCA844642400YWHAZc.679-46_679-45insGCC (n.679-46_679-45insGCC)
c.448-46_448-45insGCC (n.448-46_448-45insGCC)
c.319-46_319-45insGCC (n.319-46_319-45insGCC)
c.703-46_703-45insGCC (n.703-46_703-45insGCC)
c.454-46_454-45insGCC (n.454-46_454-45insGCC)
c.334-46_334-45insGCC (n.334-46_334-45insGCC)
 dbSNP
8g.100920800_100920801insCGGGCA1806089079YWHAZc.679-46_679-45insGCCC (n.679-46_679-45insGCCC)
c.448-46_448-45insGCCC (n.448-46_448-45insGCCC)
c.319-46_319-45insGCCC (n.319-46_319-45insGCCC)
c.703-46_703-45insGCCC (n.703-46_703-45insGCCC)
c.454-46_454-45insGCCC (n.454-46_454-45insGCCC)
c.334-46_334-45insGCCC (n.334-46_334-45insGCCC)
 dbSNP
8g.100920800_100920801insTGGGCA1806089078YWHAZc.679-46_679-45insACCC (n.679-46_679-45insACCC)
c.448-46_448-45insACCC (n.448-46_448-45insACCC)
c.319-46_319-45insACCC (n.319-46_319-45insACCC)
c.703-46_703-45insACCC (n.703-46_703-45insACCC)
c.454-46_454-45insACCC (n.454-46_454-45insACCC)
c.334-46_334-45insACCC (n.334-46_334-45insACCC)
 dbSNP
8g.100920801_100920802insCGGGGCA844642397YWHAZc.679-46_679-45insGCCCC (n.679-46_679-45insGCCCC)
c.448-46_448-45insGCCCC (n.448-46_448-45insGCCCC)
c.319-46_319-45insGCCCC (n.319-46_319-45insGCCCC)
c.703-46_703-45insGCCCC (n.703-46_703-45insGCCCC)
c.454-46_454-45insGCCCC (n.454-46_454-45insGCCCC)
c.334-46_334-45insGCCCC (n.334-46_334-45insGCCCC)
 dbSNP
8g.100920798_100920799insACA1117190079YWHAZc.679-47_679-46insT (n.679-47_679-46insT)
c.448-47_448-46insT (n.448-47_448-46insT)
c.319-47_319-46insT (n.319-47_319-46insT)
c.703-47_703-46insT (n.703-47_703-46insT)
c.454-47_454-46insT (n.454-47_454-46insT)
c.334-47_334-46insT (n.334-47_334-46insT)
 dbSNP gnomAD v3 gnomAD v4
8g.100920798_100920799insCCA4829816YWHAZc.679-47_679-46insG (n.679-47_679-46insG)
c.448-47_448-46insG (n.448-47_448-46insG)
c.319-47_319-46insG (n.319-47_319-46insG)
c.703-47_703-46insG (n.703-47_703-46insG)
c.454-47_454-46insG (n.454-47_454-46insG)
c.334-47_334-46insG (n.334-47_334-46insG)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920798_100920799insTCA844642418YWHAZc.679-47_679-46insA (n.679-47_679-46insA)
c.448-47_448-46insA (n.448-47_448-46insA)
c.319-47_319-46insA (n.319-47_319-46insA)
c.703-47_703-46insA (n.703-47_703-46insA)
c.454-47_454-46insA (n.454-47_454-46insA)
c.334-47_334-46insA (n.334-47_334-46insA)
 dbSNP gnomAD v3 gnomAD v4
8g.100920799G>ACA4829820YWHAZc.679-47C>T (n.679-47C>T)
c.448-47C>T (n.448-47C>T)
c.319-47C>T (n.319-47C>T)
c.703-47C>T (n.703-47C>T)
c.454-47C>T (n.454-47C>T)
c.334-47C>T (n.334-47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920799G>CCA4829818YWHAZc.679-47C>G (n.679-47C>G)
c.448-47C>G (n.448-47C>G)
c.319-47C>G (n.319-47C>G)
c.703-47C>G (n.703-47C>G)
c.454-47C>G (n.454-47C>G)
c.334-47C>G (n.334-47C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920799G=CA1806089080YWHAZc.679-47C= (n.679-47C=)
c.448-47C= (n.448-47C=)
c.319-47C= (n.319-47C=)
c.703-47C= (n.703-47C=)
c.454-47C= (n.454-47C=)
c.334-47C= (n.334-47C=)
8g.100920799G>TCA4829821YWHAZc.679-47C>A (n.679-47C>A)
c.448-47C>A (n.448-47C>A)
c.319-47C>A (n.319-47C>A)
c.703-47C>A (n.703-47C>A)
c.454-47C>A (n.454-47C>A)
c.334-47C>A (n.334-47C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920799_100920800insAGCA2688116830YWHAZc.679-47_679-46insTC (n.679-47_679-46insTC)
c.448-47_448-46insTC (n.448-47_448-46insTC)
c.319-47_319-46insTC (n.319-47_319-46insTC)
c.703-47_703-46insTC (n.703-47_703-46insTC)
c.454-47_454-46insTC (n.454-47_454-46insTC)
c.334-47_334-46insTC (n.334-47_334-46insTC)
 gnomAD v4
8g.100920799_100920800insCGCA4829815YWHAZc.679-47_679-46insGC (n.679-47_679-46insGC)
c.448-47_448-46insGC (n.448-47_448-46insGC)
c.319-47_319-46insGC (n.319-47_319-46insGC)
c.703-47_703-46insGC (n.703-47_703-46insGC)
c.454-47_454-46insGC (n.454-47_454-46insGC)
c.334-47_334-46insGC (n.334-47_334-46insGC)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920799_100920800insTGCA1117190077YWHAZc.679-47_679-46insAC (n.679-47_679-46insAC)
c.448-47_448-46insAC (n.448-47_448-46insAC)
c.319-47_319-46insAC (n.319-47_319-46insAC)
c.703-47_703-46insAC (n.703-47_703-46insAC)
c.454-47_454-46insAC (n.454-47_454-46insAC)
c.334-47_334-46insAC (n.334-47_334-46insAC)
 dbSNP gnomAD v3 gnomAD v4
8g.100920800_100920801insAGGCA2688116831YWHAZc.679-47_679-46insTCC (n.679-47_679-46insTCC)
c.448-47_448-46insTCC (n.448-47_448-46insTCC)
c.319-47_319-46insTCC (n.319-47_319-46insTCC)
c.703-47_703-46insTCC (n.703-47_703-46insTCC)
c.454-47_454-46insTCC (n.454-47_454-46insTCC)
c.334-47_334-46insTCC (n.334-47_334-46insTCC)
 gnomAD v4
8g.100920800_100920801insCGGCA584007091YWHAZc.679-47_679-46insGCC (n.679-47_679-46insGCC)
c.448-47_448-46insGCC (n.448-47_448-46insGCC)
c.319-47_319-46insGCC (n.319-47_319-46insGCC)
c.703-47_703-46insGCC (n.703-47_703-46insGCC)
c.454-47_454-46insGCC (n.454-47_454-46insGCC)
c.334-47_334-46insGCC (n.334-47_334-46insGCC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920801_100920802insAGGGCA2781509281YWHAZc.679-47_679-46insTCCC (n.679-47_679-46insTCCC)
c.448-47_448-46insTCCC (n.448-47_448-46insTCCC)
c.319-47_319-46insTCCC (n.319-47_319-46insTCCC)
c.703-47_703-46insTCCC (n.703-47_703-46insTCCC)
c.454-47_454-46insTCCC (n.454-47_454-46insTCCC)
c.334-47_334-46insTCCC (n.334-47_334-46insTCCC)
8g.100920801_100920802insTGGGCA584007092YWHAZc.679-47_679-46insACCC (n.679-47_679-46insACCC)
c.448-47_448-46insACCC (n.448-47_448-46insACCC)
c.319-47_319-46insACCC (n.319-47_319-46insACCC)
c.703-47_703-46insACCC (n.703-47_703-46insACCC)
c.454-47_454-46insACCC (n.454-47_454-46insACCC)
c.334-47_334-46insACCC (n.334-47_334-46insACCC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920801_100920802insCAGGGCA2688116832YWHAZc.679-47_679-46insTGCCC (n.679-47_679-46insTGCCC)
c.448-47_448-46insTGCCC (n.448-47_448-46insTGCCC)
c.319-47_319-46insTGCCC (n.319-47_319-46insTGCCC)
c.703-47_703-46insTGCCC (n.703-47_703-46insTGCCC)
c.454-47_454-46insTGCCC (n.454-47_454-46insTGCCC)
c.334-47_334-46insTGCCC (n.334-47_334-46insTGCCC)
 gnomAD v4
8g.100920799_100920800insACA1806089082YWHAZc.679-48_679-47insT (n.679-48_679-47insT)
c.448-48_448-47insT (n.448-48_448-47insT)
c.319-48_319-47insT (n.319-48_319-47insT)
c.703-48_703-47insT (n.703-48_703-47insT)
c.454-48_454-47insT (n.454-48_454-47insT)
c.334-48_334-47insT (n.334-48_334-47insT)
 dbSNP gnomAD v4
8g.100920799_100920800insCCA4829819YWHAZc.679-48_679-47insG (n.679-48_679-47insG)
c.448-48_448-47insG (n.448-48_448-47insG)
c.319-48_319-47insG (n.319-48_319-47insG)
c.703-48_703-47insG (n.703-48_703-47insG)
c.454-48_454-47insG (n.454-48_454-47insG)
c.334-48_334-47insG (n.334-48_334-47insG)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920799_100920800insTCA4829817YWHAZc.679-48_679-47insA (n.679-48_679-47insA)
c.448-48_448-47insA (n.448-48_448-47insA)
c.319-48_319-47insA (n.319-48_319-47insA)
c.703-48_703-47insA (n.703-48_703-47insA)
c.454-48_454-47insA (n.454-48_454-47insA)
c.334-48_334-47insA (n.334-48_334-47insA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920799_100920800insATTCA2688116833YWHAZc.679-48_679-47insAAT (n.679-48_679-47insAAT)
c.448-48_448-47insAAT (n.448-48_448-47insAAT)
c.319-48_319-47insAAT (n.319-48_319-47insAAT)
c.703-48_703-47insAAT (n.703-48_703-47insAAT)
c.454-48_454-47insAAT (n.454-48_454-47insAAT)
c.334-48_334-47insAAT (n.334-48_334-47insAAT)
 gnomAD v4
8g.100920800G>ACA4829824YWHAZc.679-48C>T (n.679-48C>T)
c.448-48C>T (n.448-48C>T)
c.319-48C>T (n.319-48C>T)
c.703-48C>T (n.703-48C>T)
c.454-48C>T (n.454-48C>T)
c.334-48C>T (n.334-48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920800G>CCA4829823YWHAZc.679-48C>G (n.679-48C>G)
c.448-48C>G (n.448-48C>G)
c.319-48C>G (n.319-48C>G)
c.703-48C>G (n.703-48C>G)
c.454-48C>G (n.454-48C>G)
c.334-48C>G (n.334-48C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920800G=CA1806089081YWHAZc.679-48C= (n.679-48C=)
c.448-48C= (n.448-48C=)
c.319-48C= (n.319-48C=)
c.703-48C= (n.703-48C=)
c.454-48C= (n.454-48C=)
c.334-48C= (n.334-48C=)
8g.100920800G>TCA182492587YWHAZc.679-48C>A (n.679-48C>A)
c.448-48C>A (n.448-48C>A)
c.319-48C>A (n.319-48C>A)
c.703-48C>A (n.703-48C>A)
c.454-48C>A (n.454-48C>A)
c.334-48C>A (n.334-48C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920800_100920801insCGCA4829822YWHAZc.679-48_679-47insGC (n.679-48_679-47insGC)
c.448-48_448-47insGC (n.448-48_448-47insGC)
c.319-48_319-47insGC (n.319-48_319-47insGC)
c.703-48_703-47insGC (n.703-48_703-47insGC)
c.454-48_454-47insGC (n.454-48_454-47insGC)
c.334-48_334-47insGC (n.334-48_334-47insGC)
 dbSNP ExAC gnomAD v4
8g.100920800_100920801insTGCA1117190088YWHAZc.679-48_679-47insAC (n.679-48_679-47insAC)
c.448-48_448-47insAC (n.448-48_448-47insAC)
c.319-48_319-47insAC (n.319-48_319-47insAC)
c.703-48_703-47insAC (n.703-48_703-47insAC)
c.454-48_454-47insAC (n.454-48_454-47insAC)
c.334-48_334-47insAC (n.334-48_334-47insAC)
 gnomAD v3 gnomAD v4
8g.100920802_100920803insAGGGCA1806089085YWHAZc.679-48_679-47insTCCC (n.679-48_679-47insTCCC)
c.448-48_448-47insTCCC (n.448-48_448-47insTCCC)
c.319-48_319-47insTCCC (n.319-48_319-47insTCCC)
c.703-48_703-47insTCCC (n.703-48_703-47insTCCC)
c.454-48_454-47insTCCC (n.454-48_454-47insTCCC)
c.334-48_334-47insTCCC (n.334-48_334-47insTCCC)
 dbSNP
8g.100920802_100920803insCGGGCA1806089084YWHAZc.679-48_679-47insGCCC (n.679-48_679-47insGCCC)
c.448-48_448-47insGCCC (n.448-48_448-47insGCCC)
c.319-48_319-47insGCCC (n.319-48_319-47insGCCC)
c.703-48_703-47insGCCC (n.703-48_703-47insGCCC)
c.454-48_454-47insGCCC (n.454-48_454-47insGCCC)
c.334-48_334-47insGCCC (n.334-48_334-47insGCCC)
 dbSNP gnomAD v3 gnomAD v4
8g.100920803_100920804insAGGGGCA1806089083YWHAZc.679-48_679-47insTCCCC (n.679-48_679-47insTCCCC)
c.448-48_448-47insTCCCC (n.448-48_448-47insTCCCC)
c.319-48_319-47insTCCCC (n.319-48_319-47insTCCCC)
c.703-48_703-47insTCCCC (n.703-48_703-47insTCCCC)
c.454-48_454-47insTCCCC (n.454-48_454-47insTCCCC)
c.334-48_334-47insTCCCC (n.334-48_334-47insTCCCC)
 dbSNP gnomAD v4
8g.100920800_100920801insACA2579219767YWHAZc.679-49_679-48insT (n.679-49_679-48insT)
c.448-49_448-48insT (n.448-49_448-48insT)
c.319-49_319-48insT (n.319-49_319-48insT)
c.703-49_703-48insT (n.703-49_703-48insT)
c.454-49_454-48insT (n.454-49_454-48insT)
c.334-49_334-48insT (n.334-49_334-48insT)
 gnomAD v4
8g.100920800_100920801insCCA4829827YWHAZc.679-49_679-48insG (n.679-49_679-48insG)
c.448-49_448-48insG (n.448-49_448-48insG)
c.319-49_319-48insG (n.319-49_319-48insG)
c.703-49_703-48insG (n.703-49_703-48insG)
c.454-49_454-48insG (n.454-49_454-48insG)
c.334-49_334-48insG (n.334-49_334-48insG)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.100920800_100920801insTCA4829826YWHAZc.679-49_679-48insA (n.679-49_679-48insA)
c.448-49_448-48insA (n.448-49_448-48insA)
c.319-49_319-48insA (n.319-49_319-48insA)
c.703-49_703-48insA (n.703-49_703-48insA)
c.454-49_454-48insA (n.454-49_454-48insA)
c.334-49_334-48insA (n.334-49_334-48insA)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100920801G>ACA4829828YWHAZc.679-49C>T (n.679-49C>T)
c.448-49C>T (n.448-49C>T)
c.319-49C>T (n.319-49C>T)
c.703-49C>T (n.703-49C>T)
c.454-49C>T (n.454-49C>T)
c.334-49C>T (n.334-49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920801G>CCA4829830YWHAZc.679-49C>G (n.679-49C>G)
c.448-49C>G (n.448-49C>G)
c.319-49C>G (n.319-49C>G)
c.703-49C>G (n.703-49C>G)
c.454-49C>G (n.454-49C>G)
c.334-49C>G (n.334-49C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920801G=CA1806089086YWHAZc.679-49C= (n.679-49C=)
c.448-49C= (n.448-49C=)
c.319-49C= (n.319-49C=)
c.703-49C= (n.703-49C=)
c.454-49C= (n.454-49C=)
c.334-49C= (n.334-49C=)
8g.100920801G>TCA4829829YWHAZc.679-49C>A (n.679-49C>A)
c.448-49C>A (n.448-49C>A)
c.319-49C>A (n.319-49C>A)
c.703-49C>A (n.703-49C>A)
c.454-49C>A (n.454-49C>A)
c.334-49C>A (n.334-49C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920801_100920802insAGCA2688116835YWHAZc.679-49_679-48insTC (n.679-49_679-48insTC)
c.448-49_448-48insTC (n.448-49_448-48insTC)
c.319-49_319-48insTC (n.319-49_319-48insTC)
c.703-49_703-48insTC (n.703-49_703-48insTC)
c.454-49_454-48insTC (n.454-49_454-48insTC)
c.334-49_334-48insTC (n.334-49_334-48insTC)
 gnomAD v4
8g.100920801_100920802insCGCA844642444YWHAZc.679-49_679-48insGC (n.679-49_679-48insGC)
c.448-49_448-48insGC (n.448-49_448-48insGC)
c.319-49_319-48insGC (n.319-49_319-48insGC)
c.703-49_703-48insGC (n.703-49_703-48insGC)
c.454-49_454-48insGC (n.454-49_454-48insGC)
c.334-49_334-48insGC (n.334-49_334-48insGC)
 dbSNP gnomAD v4
8g.100920801_100920802insTGCA4829825YWHAZc.679-49_679-48insAC (n.679-49_679-48insAC)
c.448-49_448-48insAC (n.448-49_448-48insAC)
c.319-49_319-48insAC (n.319-49_319-48insAC)
c.703-49_703-48insAC (n.703-49_703-48insAC)
c.454-49_454-48insAC (n.454-49_454-48insAC)
c.334-49_334-48insAC (n.334-49_334-48insAC)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100920802_100920803insCGGCA1117190099YWHAZc.679-49_679-48insGCC (n.679-49_679-48insGCC)
c.448-49_448-48insGCC (n.448-49_448-48insGCC)
c.319-49_319-48insGCC (n.319-49_319-48insGCC)
c.703-49_703-48insGCC (n.703-49_703-48insGCC)
c.454-49_454-48insGCC (n.454-49_454-48insGCC)
c.334-49_334-48insGCC (n.334-49_334-48insGCC)
 gnomAD v3 gnomAD v4
8g.100920803_100920804insAGGGCA2688116834YWHAZc.679-49_679-48insTCCC (n.679-49_679-48insTCCC)
c.448-49_448-48insTCCC (n.448-49_448-48insTCCC)
c.319-49_319-48insTCCC (n.319-49_319-48insTCCC)
c.703-49_703-48insTCCC (n.703-49_703-48insTCCC)
c.454-49_454-48insTCCC (n.454-49_454-48insTCCC)
c.334-49_334-48insTCCC (n.334-49_334-48insTCCC)
 gnomAD v4
8g.100920803_100920804insCGGGCA584007093YWHAZc.679-49_679-48insGCCC (n.679-49_679-48insGCCC)
c.448-49_448-48insGCCC (n.448-49_448-48insGCCC)
c.319-49_319-48insGCCC (n.319-49_319-48insGCCC)
c.703-49_703-48insGCCC (n.703-49_703-48insGCCC)
c.454-49_454-48insGCCC (n.454-49_454-48insGCCC)
c.334-49_334-48insGCCC (n.334-49_334-48insGCCC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100920803_100920804insTGGGCA2567865020YWHAZc.679-49_679-48insACCC (n.679-49_679-48insACCC)
c.448-49_448-48insACCC (n.448-49_448-48insACCC)
c.319-49_319-48insACCC (n.319-49_319-48insACCC)
c.703-49_703-48insACCC (n.703-49_703-48insACCC)
c.454-49_454-48insACCC (n.454-49_454-48insACCC)
c.334-49_334-48insACCC (n.334-49_334-48insACCC)
8g.100920804_100920805insAGGGGCA1806089087YWHAZc.679-49_679-48insTCCCC (n.679-49_679-48insTCCCC)
c.448-49_448-48insTCCCC (n.448-49_448-48insTCCCC)
c.319-49_319-48insTCCCC (n.319-49_319-48insTCCCC)
c.703-49_703-48insTCCCC (n.703-49_703-48insTCCCC)
c.454-49_454-48insTCCCC (n.454-49_454-48insTCCCC)
c.334-49_334-48insTCCCC (n.334-49_334-48insTCCCC)
 dbSNP

Number of alleles fetched