Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.27173298_27173331delCA2783315799TEKc.837_870del (p.Phe279LeufsTer?)
c.837_870del (p.Phe279LeufsTer16)
c.396_429del (p.Phe132LeufsTer16)
c.525_558del (p.Phe175LeufsTer16)
9g.27173326T>ACA373125773TEKc.865T>A (p.Cys289Ser)
c.424T>A (p.Cys142Ser)
c.553T>A (p.Cys185Ser)
9g.27173326T>CCA373125776TEKc.865T>C (p.Cys289Arg)
c.424T>C (p.Cys142Arg)
c.553T>C (p.Cys185Arg)
9g.27173326T>GCA373125779TEKc.865T>G (p.Cys289Gly)
c.424T>G (p.Cys142Gly)
c.553T>G (p.Cys185Gly)
9g.27173327G>ACA373125785TEKc.866G>A (p.Cys289Tyr)
c.425G>A (p.Cys142Tyr)
c.554G>A (p.Cys185Tyr)
dbSNP
9g.27173327G>CCA373125788TEKc.866G>C (p.Cys289Ser)
c.425G>C (p.Cys142Ser)
c.554G>C (p.Cys185Ser)
9g.27173327G=CA1842021738TEKc.866G= (p.Cys289=)
c.425G= (p.Cys142=)
c.554G= (p.Cys185=)
9g.27173327G>TCA373125790TEKc.866G>T (p.Cys289Phe)
c.425G>T (p.Cys142Phe)
c.554G>T (p.Cys185Phe)
9g.27173328T>ACA373125792TEKc.867T>A (p.Cys289Ter)
c.426T>A (p.Cys142Ter)
c.555T>A (p.Cys185Ter)
9g.27173328T>CCA464168718TEKc.867T>C (p.Cys289=)
c.426T>C (p.Cys142=)
c.555T>C (p.Cys185=)
9g.27173328T>GCA373125795TEKc.867T>G (p.Cys289Trp)
c.426T>G (p.Cys142Trp)
c.555T>G (p.Cys185Trp)
9g.27173329G>ACA373125798TEKc.868G>A (p.Ala290Thr)
c.427G>A (p.Ala143Thr)
c.556G>A (p.Ala186Thr)
9g.27173329G>CCA373125802TEKc.868G>C (p.Ala290Pro)
c.427G>C (p.Ala143Pro)
c.556G>C (p.Ala186Pro)
9g.27173329G>TCA373125804TEKc.868G>T (p.Ala290Ser)
c.427G>T (p.Ala143Ser)
c.556G>T (p.Ala186Ser)
9g.27173330C>ACA373125810TEKc.869C>A (p.Ala290Asp)
c.428C>A (p.Ala143Asp)
c.557C>A (p.Ala186Asp)
9g.27173330C=CA1842021742TEKc.869C= (p.Ala290=)
c.428C= (p.Ala143=)
c.557C= (p.Ala186=)
9g.27173330C>GCA373125827TEKc.869C>G (p.Ala290Gly)
c.428C>G (p.Ala143Gly)
c.557C>G (p.Ala186Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173330C>TCA373125809TEKc.869C>T (p.Ala290Val)
c.428C>T (p.Ala143Val)
c.557C>T (p.Ala186Val)
9g.27173331C>ACA464168721TEKc.870C>A (p.Ala290=)
c.429C>A (p.Ala143=)
c.558C>A (p.Ala186=)
9g.27173331C=CA1842021749TEKc.870C= (p.Ala290=)
c.429C= (p.Ala143=)
c.558C= (p.Ala186=)
9g.27173331C>GCA464168720TEKc.870C>G (p.Ala290=)
c.429C>G (p.Ala143=)
c.558C>G (p.Ala186=)
dbSNP gnomAD v2 gnomAD v4
9g.27173331C>TCA5016035TEKc.870C>T (p.Ala290=)
c.429C>T (p.Ala143=)
c.558C>T (p.Ala186=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173332A>CCA373125843TEKc.871A>C (p.Thr291Pro)
c.430A>C (p.Thr144Pro)
c.559A>C (p.Thr187Pro)
9g.27173332A>GCA373125836TEKc.871A>G (p.Thr291Ala)
c.430A>G (p.Thr144Ala)
c.559A>G (p.Thr187Ala)
9g.27173332A>TCA373125839TEKc.871A>T (p.Thr291Ser)
c.430A>T (p.Thr144Ser)
c.559A>T (p.Thr187Ser)
9g.27173333C>ACA373125849TEKc.872C>A (p.Thr291Lys)
c.431C>A (p.Thr144Lys)
c.560C>A (p.Thr187Lys)
9g.27173333C>GCA373125850TEKc.872C>G (p.Thr291Arg)
c.431C>G (p.Thr144Arg)
c.560C>G (p.Thr187Arg)
9g.27173333C>TCA373125853TEKc.872C>T (p.Thr291Ile)
c.431C>T (p.Thr144Ile)
c.560C>T (p.Thr187Ile)
gnomAD v4
9g.27173334A=CA1842021754TEKc.873A= (p.Thr291=)
c.432A= (p.Thr144=)
c.561A= (p.Thr187=)
9g.27173334A>CCA464168725TEKc.873A>C (p.Thr291=)
c.432A>C (p.Thr144=)
c.561A>C (p.Thr187=)
9g.27173334A>GCA464168724TEKc.873A>G (p.Thr291=)
c.432A>G (p.Thr144=)
c.561A>G (p.Thr187=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173334A>TCA464168723TEKc.873A>T (p.Thr291=)
c.432A>T (p.Thr144=)
c.561A>T (p.Thr187=)
9g.27173335G>ACA373125854TEKc.874G>A (p.Gly292Ser)
c.433G>A (p.Gly145Ser)
c.562G>A (p.Gly188Ser)
COSMIC COSMIC
9g.27173335G>CCA373125855TEKc.874G>C (p.Gly292Arg)
c.433G>C (p.Gly145Arg)
c.562G>C (p.Gly188Arg)
9g.27173335G>TCA373125856TEKc.874G>T (p.Gly292Cys)
c.433G>T (p.Gly145Cys)
c.562G>T (p.Gly188Cys)
9g.27173336G>ACA373125858TEKc.875G>A (p.Gly292Asp)
c.434G>A (p.Gly145Asp)
c.563G>A (p.Gly188Asp)
9g.27173336G>CCA373125860TEKc.875G>C (p.Gly292Ala)
c.434G>C (p.Gly145Ala)
c.563G>C (p.Gly188Ala)
9g.27173336G>TCA373125862TEKc.875G>T (p.Gly292Val)
c.434G>T (p.Gly145Val)
c.563G>T (p.Gly188Val)
9g.27173337C>ACA464168727TEKc.876C>A (p.Gly292=)
c.435C>A (p.Gly145=)
c.564C>A (p.Gly188=)
9g.27173337C=CA1842021757TEKc.876C= (p.Gly292=)
c.435C= (p.Gly145=)
c.564C= (p.Gly188=)
9g.27173337C>GCA464168729TEKc.876C>G (p.Gly292=)
c.435C>G (p.Gly145=)
c.564C>G (p.Gly188=)
9g.27173337C>TCA464168728TEKc.876C>T (p.Gly292=)
c.435C>T (p.Gly145=)
c.564C>T (p.Gly188=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173338T>ACA373125868TEKc.877T>A (p.Trp293Arg)
c.436T>A (p.Trp146Arg)
c.565T>A (p.Trp189Arg)
9g.27173338T>CCA373125867TEKc.877T>C (p.Trp293Arg)
c.436T>C (p.Trp146Arg)
c.565T>C (p.Trp189Arg)
9g.27173338T>GCA373125866TEKc.877T>G (p.Trp293Gly)
c.436T>G (p.Trp146Gly)
c.565T>G (p.Trp189Gly)
9g.27173339G>ACA373125869TEKc.878G>A (p.Trp293Ter)
c.437G>A (p.Trp146Ter)
c.566G>A (p.Trp189Ter)
9g.27173339G>CCA373125871TEKc.878G>C (p.Trp293Ser)
c.437G>C (p.Trp146Ser)
c.566G>C (p.Trp189Ser)
9g.27173339G>TCA373125873TEKc.878G>T (p.Trp293Leu)
c.437G>T (p.Trp146Leu)
c.566G>T (p.Trp189Leu)
9g.27173340G>ACA373125876TEKc.879G>A (p.Trp293Ter)
c.438G>A (p.Trp146Ter)
c.567G>A (p.Trp189Ter)
9g.27173340G>CCA373125879TEKc.879G>C (p.Trp293Cys)
c.438G>C (p.Trp146Cys)
c.567G>C (p.Trp189Cys)
9g.27173340G>TCA373125882TEKc.879G>T (p.Trp293Cys)
c.438G>T (p.Trp146Cys)
c.567G>T (p.Trp189Cys)
9g.27173340_27173342delinsGAACA1842021763TEKc.879_881delinsGAA (p.Trp293=)
c.438_440delinsGAA (p.Trp146=)
c.567_569delinsGAA (p.Trp189=)
9g.27173341A=CA1842021775TEKc.880A= (p.Lys294=)
c.439A= (p.Lys147=)
c.568A= (p.Lys190=)
9g.27173341A>CCA5016037TEKc.880A>C (p.Lys294Gln)
c.439A>C (p.Lys147Gln)
c.568A>C (p.Lys190Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173341A>GCA5016036TEKc.880A>G (p.Lys294Glu)
c.439A>G (p.Lys147Glu)
c.568A>G (p.Lys190Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173341A>TCA373125897TEKc.880A>T (p.Lys294Ter)
c.439A>T (p.Lys147Ter)
c.568A>T (p.Lys190Ter)
9g.27173341_27173342delCA587124070TEKc.880_881del (p.Lys294GlyfsTer6)
c.439_440del (p.Lys147GlyfsTer6)
c.568_569del (p.Lys190GlyfsTer6)
dbSNP gnomAD v2
9g.27173342A=CA1842021783TEKc.881A= (p.Lys294=)
c.440A= (p.Lys147=)
c.569A= (p.Lys190=)
9g.27173342A>CCA373125901TEKc.881A>C (p.Lys294Thr)
c.440A>C (p.Lys147Thr)
c.569A>C (p.Lys190Thr)
gnomAD v4
9g.27173342A>GCA5016038TEKc.881A>G (p.Lys294Arg)
c.440A>G (p.Lys147Arg)
c.569A>G (p.Lys190Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173342A>TCA373125911TEKc.881A>T (p.Lys294Met)
c.440A>T (p.Lys147Met)
c.569A>T (p.Lys190Met)
9g.27173343G>ACA464168734TEKc.882G>A (p.Lys294=)
c.441G>A (p.Lys147=)
c.570G>A (p.Lys190=)
9g.27173343G>CCA5016039TEKc.882G>C (p.Lys294Asn)
c.441G>C (p.Lys147Asn)
c.570G>C (p.Lys190Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173343G=CA1842021787TEKc.882G= (p.Lys294=)
c.441G= (p.Lys147=)
c.570G= (p.Lys190=)
9g.27173343G>TCA373125915TEKc.882G>T (p.Lys294Asn)
c.441G>T (p.Lys147Asn)
c.570G>T (p.Lys190Asn)
9g.27173344G>ACA373125922TEKc.883G>A (p.Gly295Ser)
c.442G>A (p.Gly148Ser)
c.571G>A (p.Gly191Ser)
9g.27173344G>CCA373125928TEKc.883G>C (p.Gly295Arg)
c.442G>C (p.Gly148Arg)
c.571G>C (p.Gly191Arg)
gnomAD v4
9g.27173344G>TCA373125931TEKc.883G>T (p.Gly295Cys)
c.442G>T (p.Gly148Cys)
c.571G>T (p.Gly191Cys)
COSMIC COSMIC
9g.27173345G>ACA373125937TEKc.884G>A (p.Gly295Asp)
c.443G>A (p.Gly148Asp)
c.572G>A (p.Gly191Asp)
gnomAD v4
9g.27173345G>CCA373125944TEKc.884G>C (p.Gly295Ala)
c.443G>C (p.Gly148Ala)
c.572G>C (p.Gly191Ala)
9g.27173345G>TCA373125946TEKc.884G>T (p.Gly295Val)
c.443G>T (p.Gly148Val)
c.572G>T (p.Gly191Val)
9g.27173346T>ACA464168736TEKc.885T>A (p.Gly295=)
c.444T>A (p.Gly148=)
c.573T>A (p.Gly191=)
9g.27173346T>CCA464168737TEKc.885T>C (p.Gly295=)
c.444T>C (p.Gly148=)
c.573T>C (p.Gly191=)
9g.27173346T>GCA5016040TEKc.885T>G (p.Gly295=)
c.444T>G (p.Gly148=)
c.573T>G (p.Gly191=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173346T=CA1842021795TEKc.885T= (p.Gly295=)
c.444T= (p.Gly148=)
c.573T= (p.Gly191=)
9g.27173347C>ACA373125954TEKc.886C>A (p.Leu296Met)
c.445C>A (p.Leu149Met)
c.574C>A (p.Leu192Met)
9g.27173347C=CA1842021799TEKc.886C= (p.Leu296=)
c.445C= (p.Leu149=)
c.574C= (p.Leu192=)
9g.27173347C>GCA373125958TEKc.886C>G (p.Leu296Val)
c.445C>G (p.Leu149Val)
c.574C>G (p.Leu192Val)
dbSNP gnomAD v2
9g.27173347C>TCA464168738TEKc.886C>T (p.Leu296=)
c.445C>T (p.Leu149=)
c.574C>T (p.Leu192=)
9g.27173348T>ACA373125977TEKc.887T>A (p.Leu296Gln)
c.446T>A (p.Leu149Gln)
c.575T>A (p.Leu192Gln)
9g.27173348T>CCA373125982TEKc.887T>C (p.Leu296Pro)
c.446T>C (p.Leu149Pro)
c.575T>C (p.Leu192Pro)
9g.27173348T>GCA373125985TEKc.887T>G (p.Leu296Arg)
c.446T>G (p.Leu149Arg)
c.575T>G (p.Leu192Arg)
9g.27173349G>ACA464168740TEKc.888G>A (p.Leu296=)
c.447G>A (p.Leu149=)
c.576G>A (p.Leu192=)
9g.27173349G>CCA464168741TEKc.888G>C (p.Leu296=)
c.447G>C (p.Leu149=)
c.576G>C (p.Leu192=)
9g.27173349G>TCA464168742TEKc.888G>T (p.Leu296=)
c.447G>T (p.Leu149=)
c.576G>T (p.Leu192=)
9g.27173350C>ACA373125996TEKc.889C>A (p.Gln297Lys)
c.448C>A (p.Gln150Lys)
c.577C>A (p.Gln193Lys)
9g.27173350C>GCA373125999TEKc.889C>G (p.Gln297Glu)
c.448C>G (p.Gln150Glu)
c.577C>G (p.Gln193Glu)
9g.27173350C>TCA373125990TEKc.889C>T (p.Gln297Ter)
c.448C>T (p.Gln150Ter)
c.577C>T (p.Gln193Ter)
9g.27173351A>CCA373126000TEKc.890A>C (p.Gln297Pro)
c.449A>C (p.Gln150Pro)
c.578A>C (p.Gln193Pro)
9g.27173351A>GCA373126001TEKc.890A>G (p.Gln297Arg)
c.449A>G (p.Gln150Arg)
c.578A>G (p.Gln193Arg)
9g.27173351A>TCA373126002TEKc.890A>T (p.Gln297Leu)
c.449A>T (p.Gln150Leu)
c.578A>T (p.Gln193Leu)
9g.27173352G>ACA464168744TEKc.891G>A (p.Gln297=)
c.450G>A (p.Gln150=)
c.579G>A (p.Gln193=)
9g.27173352G>CCA373126005TEKc.891G>C (p.Gln297His)
c.450G>C (p.Gln150His)
c.579G>C (p.Gln193His)
9g.27173352G>TCA373126007TEKc.891G>T (p.Gln297His)
c.450G>T (p.Gln150His)
c.579G>T (p.Gln193His)
9g.27173353T>ACA373126022TEKc.892T>A (p.Cys298Ser)
c.451T>A (p.Cys151Ser)
c.580T>A (p.Cys194Ser)
9g.27173353T>CCA373126019TEKc.892T>C (p.Cys298Arg)
c.451T>C (p.Cys151Arg)
c.580T>C (p.Cys194Arg)
9g.27173353T>GCA373126020TEKc.892T>G (p.Cys298Gly)
c.451T>G (p.Cys151Gly)
c.580T>G (p.Cys194Gly)
9g.27173354G>ACA373126023TEKc.893G>A (p.Cys298Tyr)
c.452G>A (p.Cys151Tyr)
c.581G>A (p.Cys194Tyr)
COSMIC COSMIC
9g.27173354G>CCA373126027TEKc.893G>C (p.Cys298Ser)
c.452G>C (p.Cys151Ser)
c.581G>C (p.Cys194Ser)
9g.27173354G>TCA373126032TEKc.893G>T (p.Cys298Phe)
c.452G>T (p.Cys151Phe)
c.581G>T (p.Cys194Phe)
9g.27173355C>ACA373126035TEKc.894C>A (p.Cys298Ter)
c.453C>A (p.Cys151Ter)
c.582C>A (p.Cys194Ter)
9g.27173355C=CA1842021804TEKc.894C= (p.Cys298=)
c.453C= (p.Cys151=)
c.582C= (p.Cys194=)
9g.27173355C>GCA373126040TEKc.894C>G (p.Cys298Trp)
c.453C>G (p.Cys151Trp)
c.582C>G (p.Cys194Trp)
9g.27173355C>TCA464168748TEKc.894C>T (p.Cys298=)
c.453C>T (p.Cys151=)
c.582C>T (p.Cys194=)
dbSNP gnomAD v3 gnomAD v4
9g.27173356A=CA1842021808TEKc.895A= (p.Asn299=)
c.454A= (p.Asn152=)
c.583A= (p.Asn195=)
9g.27173356A>CCA373126072TEKc.895A>C (p.Asn299His)
c.454A>C (p.Asn152His)
c.583A>C (p.Asn195His)
9g.27173356A>GCA5016041TEKc.895A>G (p.Asn299Asp)
c.454A>G (p.Asn152Asp)
c.583A>G (p.Asn195Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173356A>TCA373126050TEKc.895A>T (p.Asn299Tyr)
c.454A>T (p.Asn152Tyr)
c.583A>T (p.Asn195Tyr)
9g.27173357A=CA1842021812TEKc.896A= (p.Asn299=)
c.455A= (p.Asn152=)
c.584A= (p.Asn195=)
9g.27173357A>CCA373126077TEKc.896A>C (p.Asn299Thr)
c.455A>C (p.Asn152Thr)
c.584A>C (p.Asn195Thr)
9g.27173357A>GCA373126083TEKc.896A>G (p.Asn299Ser)
c.455A>G (p.Asn152Ser)
c.584A>G (p.Asn195Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173357A>TCA373126081TEKc.896A>T (p.Asn299Ile)
c.455A>T (p.Asn152Ile)
c.584A>T (p.Asn195Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173358T>ACA373126088TEKc.897T>A (p.Asn299Lys)
c.456T>A (p.Asn152Lys)
c.585T>A (p.Asn195Lys)
9g.27173358T>CCA464168751TEKc.897T>C (p.Asn299=)
c.456T>C (p.Asn152=)
c.585T>C (p.Asn195=)
9g.27173358T>GCA373126099TEKc.897T>G (p.Asn299Lys)
c.456T>G (p.Asn152Lys)
c.585T>G (p.Asn195Lys)
9g.27173359G>ACA191326101TEKc.898G>A (p.Glu300Lys)
c.457G>A (p.Glu153Lys)
c.586G>A (p.Glu196Lys)
dbSNP gnomAD v2 gnomAD v4
9g.27173359G>CCA373126104TEKc.898G>C (p.Glu300Gln)
c.457G>C (p.Glu153Gln)
c.586G>C (p.Glu196Gln)
9g.27173359G=CA1842021818TEKc.898G= (p.Glu300=)
c.457G= (p.Glu153=)
c.586G= (p.Glu196=)
9g.27173359G>TCA373126106TEKc.898G>T (p.Glu300Ter)
c.457G>T (p.Glu153Ter)
c.586G>T (p.Glu196Ter)
9g.27173360A>CCA373126675TEKc.899A>C (p.Glu300Ala)
c.458A>C (p.Glu153Ala)
c.587A>C (p.Glu196Ala)
9g.27173360A>GCA373126678TEKc.899A>G (p.Glu300Gly)
c.458A>G (p.Glu153Gly)
c.587A>G (p.Glu196Gly)
gnomAD v4
9g.27173360A>TCA373126679TEKc.899A>T (p.Glu300Val)
c.458A>T (p.Glu153Val)
c.587A>T (p.Glu196Val)
9g.27173361A>CCA373126685TEKc.900A>C (p.Glu300Asp)
c.459A>C (p.Glu153Asp)
c.588A>C (p.Glu196Asp)
9g.27173361A>GCA464168850TEKc.900A>G (p.Glu300=)
c.459A>G (p.Glu153=)
c.588A>G (p.Glu196=)
9g.27173361A>TCA373126686TEKc.900A>T (p.Glu300Asp)
c.459A>T (p.Glu153Asp)
c.588A>T (p.Glu196Asp)
9g.27173362G>ACA373126690TEKc.901G>A (p.Ala301Thr)
c.901G>A (p.Gly301Ser)
c.460G>A (p.Gly154Ser)
c.589G>A (p.Gly197Ser)
9g.27173362G>CCA373126692TEKc.901G>C (p.Ala301Pro)
c.901G>C (p.Gly301Arg)
c.460G>C (p.Gly154Arg)
c.589G>C (p.Gly197Arg)
9g.27173362G>TCA373126694TEKc.901G>T (p.Ala301Ser)
c.901G>T (p.Gly301Cys)
c.460G>T (p.Gly154Cys)
c.589G>T (p.Gly197Cys)
9g.27173363G>ACA373126701TEKc.901+1G>A (n.901+1G>A)
c.460+1G>A (n.460+1G>A)
c.589+1G>A (n.589+1G>A)
9g.27173363G>CCA373126699TEKc.901+1G>C (n.901+1G>C)
c.460+1G>C (n.460+1G>C)
c.589+1G>C (n.589+1G>C)
9g.27173363G>TCA373126697TEKc.901+1G>T (n.901+1G>T)
c.460+1G>T (n.460+1G>T)
c.589+1G>T (n.589+1G>T)
9g.27173364T>ACA373126705TEKc.901+2T>A (n.901+2T>A)
c.460+2T>A (n.460+2T>A)
c.589+2T>A (n.589+2T>A)
9g.27173364T>CCA373126707TEKc.901+2T>C (n.901+2T>C)
c.460+2T>C (n.460+2T>C)
c.589+2T>C (n.589+2T>C)
9g.27173364T>GCA373126711TEKc.901+2T>G (n.901+2T>G)
c.460+2T>G (n.460+2T>G)
c.589+2T>G (n.589+2T>G)
9g.27173365A>GCA2689641475TEKc.901+3A>G (n.901+3A>G)
c.460+3A>G (n.460+3A>G)
c.589+3A>G (n.589+3A>G)
gnomAD v4
9g.27173366T>CCA1842021824TEKc.901+4T>C (n.901+4T>C)
c.460+4T>C (n.460+4T>C)
c.589+4T>C (n.589+4T>C)
dbSNP gnomAD v4
9g.27173366T>GCA5016042TEKc.901+4T>G (n.901+4T>G)
c.460+4T>G (n.460+4T>G)
c.589+4T>G (n.589+4T>G)
dbSNP ExAC gnomAD v3 gnomAD v4
9g.27173366T=CA1842021821TEKc.901+4T= (n.901+4T=)
c.460+4T= (n.460+4T=)
c.589+4T= (n.589+4T=)
9g.27173367G>ACA5016043TEKc.901+5G>A (n.901+5G>A)
c.460+5G>A (n.460+5G>A)
c.589+5G>A (n.589+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173367G=CA1842021828TEKc.901+5G= (n.901+5G=)
c.460+5G= (n.460+5G=)
c.589+5G= (n.589+5G=)
9g.27173368C=CA1842021830TEKc.901+6C= (n.901+6C=)
c.460+6C= (n.460+6C=)
c.589+6C= (n.589+6C=)
9g.27173368C>TCA1842021831TEKc.901+6C>T (n.901+6C>T)
c.460+6C>T (n.460+6C>T)
c.589+6C>T (n.589+6C>T)
dbSNP gnomAD v4
9g.27173373A=CA1842021836TEKc.901+11A= (n.901+11A=)
c.460+11A= (n.460+11A=)
c.589+11A= (n.589+11A=)
9g.27173373A>GCA1842021834TEKc.901+11A>G (n.901+11A>G)
c.460+11A>G (n.460+11A>G)
c.589+11A>G (n.589+11A>G)
dbSNP
9g.27173373A>TCA191326105TEKc.901+11A>T (n.901+11A>T)
c.460+11A>T (n.460+11A>T)
c.589+11A>T (n.589+11A>T)
dbSNP
9g.27173374T>ACA2783315809TEKc.901+12T>A (n.901+12T>A)
c.460+12T>A (n.460+12T>A)
c.589+12T>A (n.589+12T>A)
9g.27173374T>CCA2783315811TEKc.901+12T>C (n.901+12T>C)
c.460+12T>C (n.460+12T>C)
c.589+12T>C (n.589+12T>C)
9g.27173375C>GCA2689641476TEKc.901+13C>G (n.901+13C>G)
c.460+13C>G (n.460+13C>G)
c.589+13C>G (n.589+13C>G)
gnomAD v4
9g.27173377C>GCA2579318898TEKc.901+15C>G (n.901+15C>G)
c.460+15C>G (n.460+15C>G)
c.589+15C>G (n.589+15C>G)
9g.27173377C>TCA2689641477TEKc.901+15C>T (n.901+15C>T)
c.460+15C>T (n.460+15C>T)
c.589+15C>T (n.589+15C>T)
gnomAD v4
9g.27173379C>ACA862769477TEKc.901+17C>A (n.901+17C>A)
c.460+17C>A (n.460+17C>A)
c.589+17C>A (n.589+17C>A)
dbSNP gnomAD v3 gnomAD v4
9g.27173379C=CA1842021838TEKc.901+17C= (n.901+17C=)
c.460+17C= (n.460+17C=)
c.589+17C= (n.589+17C=)
9g.27173379C>GCA5016044TEKc.901+17C>G (n.901+17C>G)
c.460+17C>G (n.460+17C>G)
c.589+17C>G (n.589+17C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173379C>TCA2689641479TEKc.901+17C>T (n.901+17C>T)
c.460+17C>T (n.460+17C>T)
c.589+17C>T (n.589+17C>T)
gnomAD v4
9g.27173381delCA2689641478TEKc.901+19del (n.901+19del)
c.460+19del (n.460+19del)
c.589+19del (n.589+19del)
gnomAD v4
9g.27173380C>ACA5016045TEKc.901+18C>A (n.901+18C>A)
c.460+18C>A (n.460+18C>A)
c.589+18C>A (n.589+18C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173380C=CA1842021842TEKc.901+18C= (n.901+18C=)
c.460+18C= (n.460+18C=)
c.589+18C= (n.589+18C=)
9g.27173380C>TCA2579318899TEKc.901+18C>T (n.901+18C>T)
c.460+18C>T (n.460+18C>T)
c.589+18C>T (n.589+18C>T)
9g.27173381C>ACA2579318900TEKc.901+19C>A (n.901+19C>A)
c.460+19C>A (n.460+19C>A)
c.589+19C>A (n.589+19C>A)
9g.27173381C=CA1842021845TEKc.901+19C= (n.901+19C=)
c.460+19C= (n.460+19C=)
c.589+19C= (n.589+19C=)
9g.27173381C>GCA587124084TEKc.901+19C>G (n.901+19C>G)
c.460+19C>G (n.460+19C>G)
c.589+19C>G (n.589+19C>G)
dbSNP gnomAD v2 gnomAD v4
9g.27173381C>TCA2689641480TEKc.901+19C>T (n.901+19C>T)
c.460+19C>T (n.460+19C>T)
c.589+19C>T (n.589+19C>T)
gnomAD v4
9g.27173381_27173382delinsCTCA1842021846TEKc.901+19_901+20delinsCT (n.901+19_901+20delinsCT)
c.460+19_460+20delinsCT (n.460+19_460+20delinsCT)
c.589+19_589+20delinsCT (n.589+19_589+20delinsCT)
9g.27173382T>CCA2689641481TEKc.901+20T>C (n.901+20T>C)
c.460+20T>C (n.460+20T>C)
c.589+20T>C (n.589+20T>C)
gnomAD v4
9g.27173383delCA191326111TEKc.901+21del (n.901+21del)
c.460+21del (n.460+21del)
c.589+21del (n.589+21del)
dbSNP
9g.27173382_27173384delCA2783315814TEKc.901+20_901+22del (n.901+20_901+22del)
c.460+20_460+22del (n.460+20_460+22del)
c.589+20_589+22del (n.589+20_589+22del)
9g.27173383T>CCA1842021847TEKc.901+21T>C (n.901+21T>C)
c.460+21T>C (n.460+21T>C)
c.589+21T>C (n.589+21T>C)
dbSNP
9g.27173383T=CA1842021849TEKc.901+21T= (n.901+21T=)
c.460+21T= (n.460+21T=)
c.589+21T= (n.589+21T=)
9g.27173385G>ACA2689641482TEKc.901+23G>A (n.901+23G>A)
c.460+23G>A (n.460+23G>A)
c.589+23G>A (n.589+23G>A)
gnomAD v4
9g.27173386A=CA1842021851TEKc.901+24A= (n.901+24A=)
c.460+24A= (n.460+24A=)
c.589+24A= (n.589+24A=)
9g.27173386A>GCA5016046TEKc.901+24A>G (n.901+24A>G)
c.460+24A>G (n.460+24A>G)
c.589+24A>G (n.589+24A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173387C=CA1842021854TEKc.901+25C= (n.901+25C=)
c.460+25C= (n.460+25C=)
c.589+25C= (n.589+25C=)
9g.27173387C>GCA587124085TEKc.901+25C>G (n.901+25C>G)
c.460+25C>G (n.460+25C>G)
c.589+25C>G (n.589+25C>G)
dbSNP gnomAD v2 gnomAD v4
9g.27173387C>TCA2579318901TEKc.901+25C>T (n.901+25C>T)
c.460+25C>T (n.460+25C>T)
c.589+25C>T (n.589+25C>T)
9g.27173389G>ACA5016047TEKc.901+27G>A (n.901+27G>A)
c.460+27G>A (n.460+27G>A)
c.589+27G>A (n.589+27G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173389G>CCA2689641484TEKc.901+27G>C (n.901+27G>C)
c.460+27G>C (n.460+27G>C)
c.589+27G>C (n.589+27G>C)
gnomAD v4
9g.27173389G=CA1842021856TEKc.901+27G= (n.901+27G=)
c.460+27G= (n.460+27G=)
c.589+27G= (n.589+27G=)
9g.27173389G>TCA2689641483TEKc.901+27G>T (n.901+27G>T)
c.460+27G>T (n.460+27G>T)
c.589+27G>T (n.589+27G>T)
gnomAD v4
9g.27173391G>ACA2719042680TEKc.901+29G>A (n.901+29G>A)
c.460+29G>A (n.460+29G>A)
c.589+29G>A (n.589+29G>A)
dbSNP
9g.27173391_27173394delinsGGATCA1842021859TEKc.901+29_901+32delinsGGAT (n.901+29_901+32delinsGGAT)
c.460+29_460+32delinsGGAT (n.460+29_460+32delinsGGAT)
c.589+29_589+32delinsGGAT (n.589+29_589+32delinsGGAT)
9g.27173392G>ACA2719042821TEKc.901+30G>A (n.901+30G>A)
c.460+30G>A (n.460+30G>A)
c.589+30G>A (n.589+30G>A)
dbSNP
9g.27173393_27173395delCA1842021860TEKc.901+31_901+33del (n.901+31_901+33del)
c.460+31_460+33del (n.460+31_460+33del)
c.589+31_589+33del (n.589+31_589+33del)
dbSNP
9g.27173393A>TCA2689641485TEKc.901+31A>T (n.901+31A>T)
c.460+31A>T (n.460+31A>T)
c.589+31A>T (n.589+31A>T)
gnomAD v4
9g.27173395G>ACA862769480TEKc.901+33G>A (n.901+33G>A)
c.460+33G>A (n.460+33G>A)
c.589+33G>A (n.589+33G>A)
dbSNP gnomAD v4
9g.27173395G=CA1842021864TEKc.901+33G= (n.901+33G=)
c.460+33G= (n.460+33G=)
c.589+33G= (n.589+33G=)
9g.27173396T>CCA5016048TEKc.901+34T>C (n.901+34T>C)
c.460+34T>C (n.460+34T>C)
c.589+34T>C (n.589+34T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173396T=CA1842021866TEKc.901+34T= (n.901+34T=)
c.460+34T= (n.460+34T=)
c.589+34T= (n.589+34T=)
9g.27173398C>ACA2551023607TEKc.901+36C>A (n.901+36C>A)
c.460+36C>A (n.460+36C>A)
c.589+36C>A (n.589+36C>A)
9g.27173398C=CA1842021869TEKc.901+36C= (n.901+36C=)
c.460+36C= (n.460+36C=)
c.589+36C= (n.589+36C=)
9g.27173398C>GCA2689641486TEKc.901+36C>G (n.901+36C>G)
c.460+36C>G (n.460+36C>G)
c.589+36C>G (n.589+36C>G)
gnomAD v4
9g.27173398C>TCA587124086TEKc.901+36C>T (n.901+36C>T)
c.460+36C>T (n.460+36C>T)
c.589+36C>T (n.589+36C>T)
dbSNP gnomAD v2 gnomAD v4
9g.27173399T>ACA1842021871TEKc.901+37T>A (n.901+37T>A)
c.460+37T>A (n.460+37T>A)
c.589+37T>A (n.589+37T>A)
dbSNP
9g.27173399T=CA1842021872TEKc.901+37T= (n.901+37T=)
c.460+37T= (n.460+37T=)
c.589+37T= (n.589+37T=)
9g.27173400A=CA1842021876TEKc.901+38A= (n.901+38A=)
c.460+38A= (n.460+38A=)
c.589+38A= (n.589+38A=)
9g.27173400A>GCA587124087TEKc.901+38A>G (n.901+38A>G)
c.460+38A>G (n.460+38A>G)
c.589+38A>G (n.589+38A>G)
dbSNP gnomAD v2 gnomAD v4
9g.27173401G>ACA5016049TEKc.901+39G>A (n.901+39G>A)
c.460+39G>A (n.460+39G>A)
c.589+39G>A (n.589+39G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173401G=CA1842021882TEKc.901+39G= (n.901+39G=)
c.460+39G= (n.460+39G=)
c.589+39G= (n.589+39G=)
9g.27173402C=CA1842021889TEKc.901+40C= (n.901+40C=)
c.460+40C= (n.460+40C=)
c.589+40C= (n.589+40C=)
9g.27173402C>GCA191326125TEKc.901+40C>G (n.901+40C>G)
c.460+40C>G (n.460+40C>G)
c.589+40C>G (n.589+40C>G)
dbSNP
9g.27173402C>TCA5016050TEKc.901+40C>T (n.901+40C>T)
c.460+40C>T (n.460+40C>T)
c.589+40C>T (n.589+40C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173405G>ACA2689641487TEKc.901+43G>A (n.901+43G>A)
c.460+43G>A (n.460+43G>A)
c.589+43G>A (n.589+43G>A)
gnomAD v4
9g.27173405G>CCA2689641488TEKc.901+43G>C (n.901+43G>C)
c.460+43G>C (n.460+43G>C)
c.589+43G>C (n.589+43G>C)
gnomAD v4
9g.27173405G=CA1842021903TEKc.901+43G= (n.901+43G=)
c.460+43G= (n.460+43G=)
c.589+43G= (n.589+43G=)
9g.27173405G>TCA587124088TEKc.901+43G>T (n.901+43G>T)
c.460+43G>T (n.460+43G>T)
c.589+43G>T (n.589+43G>T)
dbSNP gnomAD v2 gnomAD v4
9g.27173406T>CCA1842021908TEKc.901+44T>C (n.901+44T>C)
c.460+44T>C (n.460+44T>C)
c.589+44T>C (n.589+44T>C)
dbSNP
9g.27173406T>GCA2689641489TEKc.901+44T>G (n.901+44T>G)
c.460+44T>G (n.460+44T>G)
c.589+44T>G (n.589+44T>G)
gnomAD v4
9g.27173406T=CA1842021907TEKc.901+44T= (n.901+44T=)
c.460+44T= (n.460+44T=)
c.589+44T= (n.589+44T=)
9g.27173407A=CA1842021910TEKc.901+45A= (n.901+45A=)
c.460+45A= (n.460+45A=)
c.589+45A= (n.589+45A=)
9g.27173407A>GCA1842021911TEKc.901+45A>G (n.901+45A>G)
c.460+45A>G (n.460+45A>G)
c.589+45A>G (n.589+45A>G)
dbSNP
9g.27173408T>GCA2689641490TEKc.901+46T>G (n.901+46T>G)
c.460+46T>G (n.460+46T>G)
c.589+46T>G (n.589+46T>G)
gnomAD v4
9g.27173409A>GCA2579318902TEKc.901+47A>G (n.901+47A>G)
c.460+47A>G (n.460+47A>G)
c.589+47A>G (n.589+47A>G)
9g.27173410T>ACA191326129TEKc.901+48T>A (n.901+48T>A)
c.460+48T>A (n.460+48T>A)
c.589+48T>A (n.589+48T>A)
dbSNP gnomAD v4
9g.27173410T=CA1842021914TEKc.901+48T= (n.901+48T=)
c.460+48T= (n.460+48T=)
c.589+48T= (n.589+48T=)
9g.27173412A>GCA2689641491TEKc.901+50A>G (n.901+50A>G)
c.460+50A>G (n.460+50A>G)
c.589+50A>G (n.589+50A>G)
gnomAD v4
9g.27173414G>ACA5016051TEKc.901+52G>A (n.901+52G>A)
c.460+52G>A (n.460+52G>A)
c.589+52G>A (n.589+52G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173414G=CA1842021918TEKc.901+52G= (n.901+52G=)
c.460+52G= (n.460+52G=)
c.589+52G= (n.589+52G=)
9g.27173415G>ACA2689641492TEKc.901+53G>A (n.901+53G>A)
c.460+53G>A (n.460+53G>A)
c.589+53G>A (n.589+53G>A)
gnomAD v4
9g.27173415G>CCA1842021924TEKc.901+53G>C (n.901+53G>C)
c.460+53G>C (n.460+53G>C)
c.589+53G>C (n.589+53G>C)
dbSNP
9g.27173415G=CA1842021922TEKc.901+53G= (n.901+53G=)
c.460+53G= (n.460+53G=)
c.589+53G= (n.589+53G=)
9g.27173416delCA2689641493TEKc.901+54del (n.901+54del)
c.460+54del (n.460+54del)
c.589+54del (n.589+54del)
gnomAD v4
9g.27173416A=CA1842021926TEKc.901+54A= (n.901+54A=)
c.460+54A= (n.460+54A=)
c.589+54A= (n.589+54A=)
9g.27173416A>CCA1842021927TEKc.901+54A>C (n.901+54A>C)
c.460+54A>C (n.460+54A>C)
c.589+54A>C (n.589+54A>C)
dbSNP gnomAD v4
9g.27173417G>TCA2579318903TEKc.901+55G>T (n.901+55G>T)
c.460+55G>T (n.460+55G>T)
c.589+55G>T (n.589+55G>T)
9g.27173418_27173419delCA2689641494TEKc.901+56_901+57del (n.901+56_901+57del)
c.460+56_460+57del (n.460+56_460+57del)
c.589+56_589+57del (n.589+56_589+57del)
gnomAD v4
9g.27173419T>ACA1842021930TEKc.901+57T>A (n.901+57T>A)
c.460+57T>A (n.460+57T>A)
c.589+57T>A (n.589+57T>A)
dbSNP gnomAD v4
9g.27173419T>CCA1122570621TEKc.901+57T>C (n.901+57T>C)
c.460+57T>C (n.460+57T>C)
c.589+57T>C (n.589+57T>C)
dbSNP gnomAD v3 gnomAD v4
9g.27173419T=CA1842021928TEKc.901+57T= (n.901+57T=)
c.460+57T= (n.460+57T=)
c.589+57T= (n.589+57T=)
9g.27173420C>TCA2689641495TEKc.901+58C>T (n.901+58C>T)
c.460+58C>T (n.460+58C>T)
c.589+58C>T (n.589+58C>T)
gnomAD v4
9g.27173420_27173421insACA2783322668TEKc.901+58_901+59insA (n.901+58_901+59insA)
c.460+58_460+59insA (n.460+58_460+59insA)
c.589+58_589+59insA (n.589+58_589+59insA)
9g.27173421C>GCA2783322669TEKc.901+59C>G (n.901+59C>G)
c.460+59C>G (n.460+59C>G)
c.589+59C>G (n.589+59C>G)
9g.27173421C>TCA2689641496TEKc.901+59C>T (n.901+59C>T)
c.460+59C>T (n.460+59C>T)
c.589+59C>T (n.589+59C>T)
gnomAD v4
9g.27173422A=CA1842021935TEKc.901+60A= (n.901+60A=)
c.460+60A= (n.460+60A=)
c.589+60A= (n.589+60A=)
9g.27173422A>GCA862769488TEKc.901+60A>G (n.901+60A>G)
c.460+60A>G (n.460+60A>G)
c.589+60A>G (n.589+60A>G)
dbSNP gnomAD v3 gnomAD v4
9g.27173423G>CCA1122570622TEKc.901+61G>C (n.901+61G>C)
c.460+61G>C (n.460+61G>C)
c.589+61G>C (n.589+61G>C)
dbSNP gnomAD v3 gnomAD v4
9g.27173423G=CA1842021938TEKc.901+61G= (n.901+61G=)
c.460+61G= (n.460+61G=)
c.589+61G= (n.589+61G=)
9g.27173423G>TCA1842021939TEKc.901+61G>T (n.901+61G>T)
c.460+61G>T (n.460+61G>T)
c.589+61G>T (n.589+61G>T)
dbSNP gnomAD v4
9g.27173424T>CCA2689641497TEKc.901+62T>C (n.901+62T>C)
c.460+62T>C (n.460+62T>C)
c.589+62T>C (n.589+62T>C)
gnomAD v4

Number of alleles fetched