Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31524750C>ACA503599260DSG2n.707C>A
c.707C>A
c.876C>A (p.Arg292=)
c.342C>A (p.Arg114=)
18g.31524750C=CA2293856856DSG2n.707C=
c.707C=
c.876C= (p.Arg292=)
c.342C= (p.Arg114=)
18g.31524750C>GCA503599261DSG2n.707C>G
c.707C>G
c.876C>G (p.Arg292=)
c.342C>G (p.Arg114=)
18g.31524750C>TCA503599262DSG2n.707C>T
c.707C>T
c.876C>T (p.Arg292=)
c.342C>T (p.Arg114=)
 dbSNP gnomAD v4
18g.31524750_31524751delinsTGCA2739268639DSG2n.707_708delinsTG
c.707_708delinsTG
c.876_877delinsTG (p.Ile293Val)
c.342_343delinsTG (p.Ile115Val)
 ClinVar
18g.31524751A=CA2293856862DSG2n.708A=
c.708A=
c.877A= (p.Ile293=)
c.343A= (p.Ile115=)
18g.31524751A>CCA402135529DSG2n.708A>C
c.708A>C
c.877A>C (p.Ile293Leu)
c.343A>C (p.Ile115Leu)
18g.31524751A>GCA022337DSG2n.708A>G
c.708A>G
c.877A>G (p.Ile293Val)
c.343A>G (p.Ile115Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524751A>TCA022342DSG2n.708A>T
c.708A>T
c.877A>T (p.Ile293Leu)
c.343A>T (p.Ile115Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524752T>ACA402135532DSG2n.709T>A
c.709T>A
c.878T>A (p.Ile293Lys)
c.344T>A (p.Ile115Lys)
 gnomAD v4
18g.31524752T>CCA402135534DSG2n.709T>C
c.709T>C
c.878T>C (p.Ile293Thr)
c.344T>C (p.Ile115Thr)
18g.31524752T>GCA402135535DSG2n.709T>G
c.709T>G
c.878T>G (p.Ile293Arg)
c.344T>G (p.Ile115Arg)
18g.31524752T=CA2293856867DSG2n.709T=
c.709T=
c.878T= (p.Ile293=)
c.344T= (p.Ile115=)
18g.31524753A=CA2293856871DSG2n.710A=
c.710A=
c.879A= (p.Ile293=)
c.345A= (p.Ile115=)
18g.31524753A>CCA503599263DSG2n.710A>C
c.710A>C
c.879A>C (p.Ile293=)
c.345A>C (p.Ile115=)
18g.31524753A>GCA402135537DSG2n.710A>G
c.710A>G
c.879A>G (p.Ile293Met)
c.345A>G (p.Ile115Met)
 dbSNP gnomAD v2 gnomAD v4
18g.31524753A>TCA503599264DSG2n.710A>T
c.710A>T
c.879A>T (p.Ile293=)
c.345A>T (p.Ile115=)
18g.31524756dupCA629453638DSG2n.713dup
c.713dup
c.882dup (p.Val295SerfsTer6)
c.348dup (p.Val117SerfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524754A=CA2293856880DSG2n.711A=
c.711A=
c.880A= (p.Lys294=)
c.346A= (p.Lys116=)
18g.31524754A>CCA402135541DSG2n.711A>C
c.711A>C
c.880A>C (p.Lys294Gln)
c.346A>C (p.Lys116Gln)
 dbSNP gnomAD v2 gnomAD v4
18g.31524754A>GCA022347DSG2n.711A>G
c.711A>G
c.880A>G (p.Lys294Glu)
c.346A>G (p.Lys116Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524754A>TCA402135539DSG2n.711A>T
c.711A>T
c.880A>T (p.Lys294Ter)
c.346A>T (p.Lys116Ter)
18g.31524755A=CA2293856883DSG2n.712A=
c.712A=
c.881A= (p.Lys294=)
c.347A= (p.Lys116=)
18g.31524755A>CCA402135543DSG2n.712A>C
c.712A>C
c.881A>C (p.Lys294Thr)
c.347A>C (p.Lys116Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.31524755A>GCA402135546DSG2n.712A>G
c.712A>G
c.881A>G (p.Lys294Arg)
c.347A>G (p.Lys116Arg)
18g.31524755A>TCA402135545DSG2n.712A>T
c.712A>T
c.881A>T (p.Lys294Ile)
c.347A>T (p.Lys116Ile)
 ClinVar dbSNP
18g.31524756A=CA2293856886DSG2n.713A=
c.713A=
c.882A= (p.Lys294=)
c.348A= (p.Lys116=)
18g.31524756A>CCA402135549DSG2n.713A>C
c.713A>C
c.882A>C (p.Lys294Asn)
c.348A>C (p.Lys116Asn)
18g.31524756A>GCA503599265DSG2n.713A>G
c.713A>G
c.882A>G (p.Lys294=)
c.348A>G (p.Lys116=)
 dbSNP
18g.31524756A>TCA402135550DSG2n.713A>T
c.713A>T
c.882A>T (p.Lys294Asn)
c.348A>T (p.Lys116Asn)
18g.31524757G>ACA402135552DSG2n.714G>A
c.714G>A
c.883G>A (p.Val295Met)
c.349G>A (p.Val117Met)
18g.31524757G>CCA402135557DSG2n.714G>C
c.714G>C
c.883G>C (p.Val295Leu)
c.349G>C (p.Val117Leu)
18g.31524757G>TCA402135559DSG2n.714G>T
c.714G>T
c.883G>T (p.Val295Leu)
c.349G>T (p.Val117Leu)
18g.31524758T>ACA402135561DSG2n.715T>A
c.715T>A
c.884T>A (p.Val295Glu)
c.350T>A (p.Val117Glu)
18g.31524758T>CCA050408DSG2n.715T>C
c.715T>C
c.884T>C (p.Val295Ala)
c.350T>C (p.Val117Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524758T>GCA402135563DSG2n.715T>G
c.715T>G
c.884T>G (p.Val295Gly)
c.350T>G (p.Val117Gly)
18g.31524758T=CA2293856888DSG2n.715T=
c.715T=
c.884T= (p.Val295=)
c.350T= (p.Val117=)
18g.31524759G>ACA503599266DSG2n.716G>A
c.716G>A
c.885G>A (p.Val295=)
c.351G>A (p.Val117=)
 ClinVar dbSNP
18g.31524759G>CCA503599267DSG2n.716G>C
c.716G>C
c.885G>C (p.Val295=)
c.351G>C (p.Val117=)
18g.31524759G=CA2293856895DSG2n.716G=
c.716G=
c.885G= (p.Val295=)
c.351G= (p.Val117=)
18g.31524759G>TCA050421DSG2n.716G>T
c.716G>T
c.885G>T (p.Val295=)
c.351G>T (p.Val117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524760T>ACA402135566DSG2n.717T>A
c.717T>A
c.886T>A (p.Phe296Ile)
c.352T>A (p.Phe118Ile)
18g.31524760T>CCA402135567DSG2n.717T>C
c.717T>C
c.886T>C (p.Phe296Leu)
c.352T>C (p.Phe118Leu)
18g.31524760T>GCA402135569DSG2n.717T>G
c.717T>G
c.886T>G (p.Phe296Val)
c.352T>G (p.Phe118Val)
 dbSNP
18g.31524760T=CA2293856898DSG2n.717T=
c.717T=
c.886T= (p.Phe296=)
c.352T= (p.Phe118=)
18g.31524761T>ACA402135574DSG2n.718T>A
c.718T>A
c.887T>A (p.Phe296Tyr)
c.353T>A (p.Phe118Tyr)
18g.31524761T>CCA402135571DSG2n.718T>C
c.718T>C
c.887T>C (p.Phe296Ser)
c.353T>C (p.Phe118Ser)
18g.31524761T>GCA402135573DSG2n.718T>G
c.718T>G
c.887T>G (p.Phe296Cys)
c.353T>G (p.Phe118Cys)
18g.31524762C>ACA402135576DSG2n.719C>A
c.719C>A
c.888C>A (p.Phe296Leu)
c.354C>A (p.Phe118Leu)
18g.31524762C=CA2293856905DSG2n.719C=
c.719C=
c.888C= (p.Phe296=)
c.354C= (p.Phe118=)
18g.31524762C>GCA402135577DSG2n.719C>G
c.719C>G
c.888C>G (p.Phe296Leu)
c.354C>G (p.Phe118Leu)
 ClinVar gnomAD v4
18g.31524762C>TCA297732230DSG2n.719C>T
c.719C>T
c.888C>T (p.Phe296=)
c.354C>T (p.Phe118=)
 ClinVar dbSNP gnomAD v4
18g.31524762_31524768delinsCGATGCACA2293856901DSG2n.719_725delinsCGATGCA
c.719_725delinsCGATGCA
c.888_894delinsCGATGCA (p.Phe296=)
c.354_360delinsCGATGCA (p.Phe118=)
18g.31524763G>ACA022349DSG2n.720G>A
c.720G>A
c.889G>A (p.Asp297Asn)
c.355G>A (p.Asp119Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524763G>CCA402135579DSG2n.720G>C
c.720G>C
c.889G>C (p.Asp297His)
c.355G>C (p.Asp119His)
18g.31524763G=CA2293856910DSG2n.720G=
c.720G=
c.889G= (p.Asp297=)
c.355G= (p.Asp119=)
18g.31524763G>TCA402135581DSG2n.720G>T
c.720G>T
c.889G>T (p.Asp297Tyr)
c.355G>T (p.Asp119Tyr)
18g.31524767_31524772delCA629453640DSG2n.724_729del
c.724_729del
c.893_898del (p.Ala298_Asp299del)
c.359_364del (p.Ala120_Asp121del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524764A=CA2293856914DSG2n.721A=
c.721A=
c.890A= (p.Asp297=)
c.356A= (p.Asp119=)
18g.31524764A>CCA402135582DSG2n.721A>C
c.721A>C
c.890A>C (p.Asp297Ala)
c.356A>C (p.Asp119Ala)
18g.31524764A>GCA402135583DSG2n.721A>G
c.721A>G
c.890A>G (p.Asp297Gly)
c.356A>G (p.Asp119Gly)
 dbSNP
18g.31524764A>TCA402135585DSG2n.721A>T
c.721A>T
c.890A>T (p.Asp297Val)
c.356A>T (p.Asp119Val)
 ClinVar dbSNP
18g.31524765T>ACA402135586DSG2n.722T>A
c.722T>A
c.891T>A (p.Asp297Glu)
c.357T>A (p.Asp119Glu)
18g.31524765T>CCA503599268DSG2n.722T>C
c.722T>C
c.891T>C (p.Asp297=)
c.357T>C (p.Asp119=)
 ClinVar dbSNP gnomAD v2
18g.31524765T>GCA402135588DSG2n.722T>G
c.722T>G
c.891T>G (p.Asp297Glu)
c.357T>G (p.Asp119Glu)
18g.31524765T=CA2293856919DSG2n.722T=
c.722T=
c.891T= (p.Asp297=)
c.357T= (p.Asp119=)
18g.31524766G>ACA297732266DSG2n.723G>A
c.723G>A
c.892G>A (p.Ala298Thr)
c.358G>A (p.Ala120Thr)
 dbSNP
18g.31524766G>CCA402135592DSG2n.723G>C
c.723G>C
c.892G>C (p.Ala298Pro)
c.358G>C (p.Ala120Pro)
18g.31524766G=CA2293856921DSG2n.723G=
c.723G=
c.892G= (p.Ala298=)
c.358G= (p.Ala120=)
18g.31524766G>TCA402135590DSG2n.723G>T
c.723G>T
c.892G>T (p.Ala298Ser)
c.358G>T (p.Ala120Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.31524767C>ACA402135594DSG2n.724C>A
c.724C>A
c.893C>A (p.Ala298Glu)
c.359C>A (p.Ala120Glu)
 gnomAD v4
18g.31524767C=CA2293856927DSG2n.724C=
c.724C=
c.893C= (p.Ala298=)
c.359C= (p.Ala120=)
18g.31524767C>GCA402135596DSG2n.724C>G
c.724C>G
c.893C>G (p.Ala298Gly)
c.359C>G (p.Ala120Gly)
 ClinVar dbSNP
18g.31524767C>TCA402135597DSG2n.724C>T
c.724C>T
c.893C>T (p.Ala298Val)
c.359C>T (p.Ala120Val)
 dbSNP gnomAD v2 gnomAD v4
18g.31524768A>CCA503599269DSG2n.725A>C
c.725A>C
c.894A>C (p.Ala298=)
c.360A>C (p.Ala120=)
 gnomAD v4
18g.31524768A>GCA503599270DSG2n.725A>G
c.725A>G
c.894A>G (p.Ala298=)
c.360A>G (p.Ala120=)
 gnomAD v4
18g.31524768A>TCA503599271DSG2n.725A>T
c.725A>T
c.894A>T (p.Ala298=)
c.360A>T (p.Ala120=)
18g.31524769G>ACA297732272DSG2n.726G>A
c.726G>A
c.895G>A (p.Asp299Asn)
c.361G>A (p.Asp121Asn)
 dbSNP
18g.31524769G>CCA402135600DSG2n.726G>C
c.726G>C
c.895G>C (p.Asp299His)
c.361G>C (p.Asp121His)
18g.31524769G=CA2293856931DSG2n.726G=
c.726G=
c.895G= (p.Asp299=)
c.361G= (p.Asp121=)
18g.31524769G>TCA402135602DSG2n.726G>T
c.726G>T
c.895G>T (p.Asp299Tyr)
c.361G>T (p.Asp121Tyr)
18g.31524770A=CA2293856933DSG2n.727A=
c.727A=
c.896A= (p.Asp299=)
c.362A= (p.Asp121=)
18g.31524770A>CCA402135608DSG2n.727A>C
c.727A>C
c.896A>C (p.Asp299Ala)
c.362A>C (p.Asp121Ala)
 dbSNP
18g.31524770A>GCA402135604DSG2n.727A>G
c.727A>G
c.896A>G (p.Asp299Gly)
c.362A>G (p.Asp121Gly)
18g.31524770A>TCA402135606DSG2n.727A>T
c.727A>T
c.896A>T (p.Asp299Val)
c.362A>T (p.Asp121Val)
18g.31524771T>ACA402135609DSG2n.728T>A
c.728T>A
c.897T>A (p.Asp299Glu)
c.363T>A (p.Asp121Glu)
18g.31524771T>CCA503599272DSG2n.728T>C
c.728T>C
c.897T>C (p.Asp299=)
c.363T>C (p.Asp121=)
 gnomAD v4
18g.31524771T>GCA402135611DSG2n.728T>G
c.728T>G
c.897T>G (p.Asp299Glu)
c.363T>G (p.Asp121Glu)
18g.31524772G>ACA297732277DSG2n.729G>A
c.729G>A
c.898G>A (p.Glu300Lys)
c.364G>A (p.Glu122Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524772G>CCA402135613DSG2n.729G>C
c.729G>C
c.898G>C (p.Glu300Gln)
c.364G>C (p.Glu122Gln)
18g.31524772G=CA2293856935DSG2n.729G=
c.729G=
c.898G= (p.Glu300=)
c.364G= (p.Glu122=)
18g.31524772G>TCA402135614DSG2n.729G>T
c.729G>T
c.898G>T (p.Glu300Ter)
c.364G>T (p.Glu122Ter)
18g.31524773A>CCA402135615DSG2n.730A>C
c.730A>C
c.899A>C (p.Glu300Ala)
c.365A>C (p.Glu122Ala)
18g.31524773A>GCA402135619DSG2n.730A>G
c.730A>G
c.899A>G (p.Glu300Gly)
c.365A>G (p.Glu122Gly)
18g.31524773A>TCA402135617DSG2n.730A>T
c.730A>T
c.899A>T (p.Glu300Val)
c.365A>T (p.Glu122Val)
18g.31524775delCA2641406234DSG2n.732del
c.732del
c.901del (p.Ile301Ter)
c.367del (p.Ile123Ter)
 gnomAD v4
18g.31524774A>CCA402135621DSG2n.731A>C
c.731A>C
c.900A>C (p.Glu300Asp)
c.366A>C (p.Glu122Asp)
18g.31524774A>GCA503599273DSG2n.731A>G
c.731A>G
c.900A>G (p.Glu300=)
c.366A>G (p.Glu122=)
18g.31524774A>TCA402135622DSG2n.731A>T
c.731A>T
c.900A>T (p.Glu300Asp)
c.366A>T (p.Glu122Asp)
18g.31524775A=CA2293856940DSG2n.732A=
c.732A=
c.901A= (p.Ile301=)
c.367A= (p.Ile123=)
18g.31524775A>CCA402135623DSG2n.732A>C
c.732A>C
c.901A>C (p.Ile301Leu)
c.367A>C (p.Ile123Leu)
18g.31524775A>GCA402135624DSG2n.732A>G
c.732A>G
c.901A>G (p.Ile301Val)
c.367A>G (p.Ile123Val)
18g.31524775A>TCA402135625DSG2n.732A>T
c.732A>T
c.901A>T (p.Ile301Leu)
c.367A>T (p.Ile123Leu)
 ClinVar dbSNP gnomAD v4
18g.31524775_31524776delinsATCA2293856939DSG2n.732_733delinsAT
c.732_733delinsAT
c.901_902delinsAT (p.Ile301=)
c.367_368delinsAT (p.Ile123=)
18g.31524776delCA050440DSG2n.733del
c.733del
c.902del (p.Ile301LysfsTer23)
c.368del (p.Ile123LysfsTer23)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524776T>ACA402135626DSG2n.733T>A
c.733T>A
c.902T>A (p.Ile301Lys)
c.368T>A (p.Ile123Lys)
18g.31524776T>CCA402135627DSG2n.733T>C
c.733T>C
c.902T>C (p.Ile301Thr)
c.368T>C (p.Ile123Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524776T>GCA402135628DSG2n.733T>G
c.733T>G
c.902T>G (p.Ile301Arg)
c.368T>G (p.Ile123Arg)
18g.31524776T=CA2293856943DSG2n.733T=
c.733T=
c.902T= (p.Ile301=)
c.368T= (p.Ile123=)
18g.31524777A>CCA503599274DSG2n.734A>C
c.734A>C
c.903A>C (p.Ile301=)
c.369A>C (p.Ile123=)
18g.31524777A>GCA402135629DSG2n.734A>G
c.734A>G
c.903A>G (p.Ile301Met)
c.369A>G (p.Ile123Met)
 gnomAD v4
18g.31524777A>TCA503599275DSG2n.734A>T
c.734A>T
c.903A>T (p.Ile301=)
c.369A>T (p.Ile123=)
 gnomAD v4
18g.31524778G>ACA402135630DSG2n.735G>A
c.735G>A
c.904G>A (p.Gly302Ser)
c.370G>A (p.Gly124Ser)
 ClinVar dbSNP gnomAD v4
18g.31524778G>CCA402135632DSG2n.735G>C
c.735G>C
c.904G>C (p.Gly302Arg)
c.370G>C (p.Gly124Arg)
18g.31524778G=CA2293856944DSG2n.735G=
c.735G=
c.904G= (p.Gly302=)
c.370G= (p.Gly124=)
18g.31524778G>TCA402135631DSG2n.735G>T
c.735G>T
c.904G>T (p.Gly302Cys)
c.370G>T (p.Gly124Cys)
18g.31524779G>ACA402135633DSG2n.736G>A
c.736G>A
c.905G>A (p.Gly302Asp)
c.371G>A (p.Gly124Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.31524779G>CCA402135634DSG2n.736G>C
c.736G>C
c.905G>C (p.Gly302Ala)
c.371G>C (p.Gly124Ala)
18g.31524779G=CA2293856946DSG2n.736G=
c.736G=
c.905G= (p.Gly302=)
c.371G= (p.Gly124=)
18g.31524779G>TCA402135635DSG2n.736G>T
c.736G>T
c.905G>T (p.Gly302Val)
c.371G>T (p.Gly124Val)
18g.31524780T>ACA503599276DSG2n.737T>A
c.737T>A
c.906T>A (p.Gly302=)
c.372T>A (p.Gly124=)
18g.31524780T>CCA503599277DSG2n.737T>C
c.737T>C
c.906T>C (p.Gly302=)
c.372T>C (p.Gly124=)
 dbSNP
18g.31524780T>GCA503599278DSG2n.737T>G
c.737T>G
c.906T>G (p.Gly302=)
c.372T>G (p.Gly124=)
18g.31524780T=CA2293856948DSG2n.737T=
c.737T=
c.906T= (p.Gly302=)
c.372T= (p.Gly124=)
18g.31524781T>ACA402135636DSG2n.738T>A
c.738T>A
c.907T>A (p.Ser303Thr)
c.373T>A (p.Ser125Thr)
18g.31524781T>CCA402135637DSG2n.738T>C
c.738T>C
c.907T>C (p.Ser303Pro)
c.373T>C (p.Ser125Pro)
18g.31524781T>GCA402135638DSG2n.738T>G
c.738T>G
c.907T>G (p.Ser303Ala)
c.373T>G (p.Ser125Ala)
18g.31524782C>ACA402135639DSG2n.739C>A
c.739C>A
c.908C>A (p.Ser303Tyr)
c.374C>A (p.Ser125Tyr)
18g.31524782C=CA2293856950DSG2n.739C=
c.739C=
c.908C= (p.Ser303=)
c.374C= (p.Ser125=)
18g.31524782C>GCA402135640DSG2n.739C>G
c.739C>G
c.908C>G (p.Ser303Cys)
c.374C>G (p.Ser125Cys)
18g.31524782C>TCA050446DSG2n.739C>T
c.739C>T
c.908C>T (p.Ser303Phe)
c.374C>T (p.Ser125Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524783delCA2573155225DSG2n.740del
c.740del
c.909del (p.Asp304IlefsTer20)
c.375del (p.Asp126IlefsTer20)
 ClinVar dbSNP
18g.31524783T>ACA050457DSG2n.740T>A
c.740T>A
c.909T>A (p.Ser303=)
c.375T>A (p.Ser125=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524783T>CCA503599280DSG2n.740T>C
c.740T>C
c.909T>C (p.Ser303=)
c.375T>C (p.Ser125=)
18g.31524783T>GCA503599279DSG2n.740T>G
c.740T>G
c.909T>G (p.Ser303=)
c.375T>G (p.Ser125=)
18g.31524783T=CA2293856952DSG2n.740T=
c.740T=
c.909T= (p.Ser303=)
c.375T= (p.Ser125=)
18g.31524784G>ACA402135641DSG2n.741G>A
c.741G>A
c.910G>A (p.Asp304Asn)
c.376G>A (p.Asp126Asn)
18g.31524784G>CCA402135642DSG2n.741G>C
c.741G>C
c.910G>C (p.Asp304His)
c.376G>C (p.Asp126His)
18g.31524784G>TCA402135643DSG2n.741G>T
c.741G>T
c.910G>T (p.Asp304Tyr)
c.376G>T (p.Asp126Tyr)
18g.31524785A>CCA402135646DSG2n.742A>C
c.742A>C
c.911A>C (p.Asp304Ala)
c.377A>C (p.Asp126Ala)
18g.31524785A>GCA402135645DSG2n.742A>G
c.742A>G
c.911A>G (p.Asp304Gly)
c.377A>G (p.Asp126Gly)
 gnomAD v4
18g.31524785A>TCA402135644DSG2n.742A>T
c.742A>T
c.911A>T (p.Asp304Val)
c.377A>T (p.Asp126Val)
 gnomAD v4
18g.31524786T>ACA402135647DSG2n.743T>A
c.743T>A
c.912T>A (p.Asp304Glu)
c.378T>A (p.Asp126Glu)
18g.31524786T>CCA503599281DSG2n.743T>C
c.743T>C
c.912T>C (p.Asp304=)
c.378T>C (p.Asp126=)
 ClinVar
18g.31524786T>GCA402135648DSG2n.743T>G
c.743T>G
c.912T>G (p.Asp304Glu)
c.378T>G (p.Asp126Glu)
18g.31524786_31524815delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGACA2580095685DSG2n.743_772delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA
c.743_772delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA
c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304GlufsTer11)
c.378_407delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp126GlufsTer11)
 ClinVar
18g.31524787A=CA2293856954DSG2n.744A=
c.744A=
c.913A= (p.Asn305=)
c.379A= (p.Asn127=)
18g.31524787A>CCA402135649DSG2n.744A>C
c.744A>C
c.913A>C (p.Asn305His)
c.379A>C (p.Asn127His)
18g.31524787A>GCA402135650DSG2n.744A>G
c.744A>G
c.913A>G (p.Asn305Asp)
c.379A>G (p.Asn127Asp)
 ClinVar dbSNP
18g.31524787A>TCA402135651DSG2n.744A>T
c.744A>T
c.913A>T (p.Asn305Tyr)
c.379A>T (p.Asn127Tyr)
18g.31524788A=CA2293856956DSG2n.745A=
c.745A=
c.914A= (p.Asn305=)
c.380A= (p.Asn127=)
18g.31524788A>CCA402135652DSG2n.745A>C
c.745A>C
c.914A>C (p.Asn305Thr)
c.380A>C (p.Asn127Thr)
18g.31524788A>GCA402135653DSG2n.745A>G
c.745A>G
c.914A>G (p.Asn305Ser)
c.380A>G (p.Asn127Ser)
 ClinVar dbSNP gnomAD v4
18g.31524788A>TCA402135654DSG2n.745A>T
c.745A>T
c.914A>T (p.Asn305Ile)
c.380A>T (p.Asn127Ile)
18g.31524789T>ACA402135655DSG2n.746T>A
c.746T>A
c.915T>A (p.Asn305Lys)
c.381T>A (p.Asn127Lys)
18g.31524789T>CCA503599282DSG2n.746T>C
c.746T>C
c.915T>C (p.Asn305=)
c.381T>C (p.Asn127=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524789T>GCA402135656DSG2n.746T>G
c.746T>G
c.915T>G (p.Asn305Lys)
c.381T>G (p.Asn127Lys)
18g.31524789T=CA2293856958DSG2n.746T=
c.746T=
c.915T= (p.Asn305=)
c.381T= (p.Asn127=)
18g.31524790T>ACA402135657DSG2n.747T>A
c.747T>A
c.916T>A (p.Trp306Arg)
c.382T>A (p.Trp128Arg)
18g.31524790T>CCA402135658DSG2n.747T>C
c.747T>C
c.916T>C (p.Trp306Arg)
c.382T>C (p.Trp128Arg)
 ClinVar
18g.31524790T>GCA402135659DSG2n.747T>G
c.747T>G
c.916T>G (p.Trp306Gly)
c.382T>G (p.Trp128Gly)
18g.31524791G>ACA402135662DSG2n.748G>A
c.748G>A
c.917G>A (p.Trp306Ter)
c.383G>A (p.Trp128Ter)
 ClinVar dbSNP
18g.31524791G>CCA402135661DSG2n.748G>C
c.748G>C
c.917G>C (p.Trp306Ser)
c.383G>C (p.Trp128Ser)
18g.31524791G>TCA402135660DSG2n.748G>T
c.748G>T
c.917G>T (p.Trp306Leu)
c.383G>T (p.Trp128Leu)
18g.31524792G>ACA022354DSG2n.749G>A
c.749G>A
c.918G>A (p.Trp306Ter)
c.384G>A (p.Trp128Ter)
 ClinVar dbSNP gnomAD v4
18g.31524792G>CCA402135663DSG2n.749G>C
c.749G>C
c.918G>C (p.Trp306Cys)
c.384G>C (p.Trp128Cys)
18g.31524792G=CA2293856962DSG2n.749G=
c.749G=
c.918G= (p.Trp306=)
c.384G= (p.Trp128=)
18g.31524792G>TCA402135664DSG2n.749G>T
c.749G>T
c.918G>T (p.Trp306Cys)
c.384G>T (p.Trp128Cys)
18g.31524793C>ACA402135665DSG2n.750C>A
c.750C>A
c.919C>A (p.Leu307Met)
c.385C>A (p.Leu129Met)
18g.31524793C=CA2293856964DSG2n.750C=
c.750C=
c.919C= (p.Leu307=)
c.385C= (p.Leu129=)
18g.31524793C>GCA297732287DSG2n.750C>G
c.750C>G
c.919C>G (p.Leu307Val)
c.385C>G (p.Leu129Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524793C>TCA503599283DSG2n.750C>T
c.750C>T
c.919C>T (p.Leu307=)
c.385C>T (p.Leu129=)
18g.31524794T>ACA402135668DSG2n.751T>A
c.751T>A
c.920T>A (p.Leu307Gln)
c.386T>A (p.Leu129Gln)
 dbSNP gnomAD v2 gnomAD v4
18g.31524794T>CCA402135667DSG2n.751T>C
c.751T>C
c.920T>C (p.Leu307Pro)
c.386T>C (p.Leu129Pro)
18g.31524794T>GCA402135666DSG2n.751T>G
c.751T>G
c.920T>G (p.Leu307Arg)
c.386T>G (p.Leu129Arg)
 ClinVar
18g.31524794T=CA2293856966DSG2n.751T=
c.751T=
c.920T= (p.Leu307=)
c.386T= (p.Leu129=)
18g.31524795G>ACA503599284DSG2n.752G>A
c.752G>A
c.921G>A (p.Leu307=)
c.387G>A (p.Leu129=)
18g.31524795G>CCA503599285DSG2n.752G>C
c.752G>C
c.921G>C (p.Leu307=)
c.387G>C (p.Leu129=)
18g.31524795G>TCA503599286DSG2n.752G>T
c.752G>T
c.921G>T (p.Leu307=)
c.387G>T (p.Leu129=)
18g.31524796G>ACA402135669DSG2n.753G>A
c.753G>A
c.922G>A (p.Ala308Thr)
c.388G>A (p.Ala130Thr)
 gnomAD v4
18g.31524796G>CCA402135670DSG2n.753G>C
c.753G>C
c.922G>C (p.Ala308Pro)
c.388G>C (p.Ala130Pro)
18g.31524796G>TCA402135671DSG2n.753G>T
c.753G>T
c.922G>T (p.Ala308Ser)
c.388G>T (p.Ala130Ser)
18g.31524797C>ACA402135672DSG2n.754C>A
c.754C>A
c.923C>A (p.Ala308Glu)
c.389C>A (p.Ala130Glu)
18g.31524797C>GCA402135673DSG2n.754C>G
c.754C>G
c.923C>G (p.Ala308Gly)
c.389C>G (p.Ala130Gly)
18g.31524797C>TCA402135674DSG2n.754C>T
c.754C>T
c.923C>T (p.Ala308Val)
c.389C>T (p.Ala130Val)
18g.31524798A>CCA503599287DSG2n.755A>C
c.755A>C
c.924A>C (p.Ala308=)
c.390A>C (p.Ala130=)
18g.31524798A>GCA503599289DSG2n.755A>G
c.755A>G
c.924A>G (p.Ala308=)
c.390A>G (p.Ala130=)
18g.31524798A>TCA503599291DSG2n.755A>T
c.755A>T
c.924A>T (p.Ala308=)
c.390A>T (p.Ala130=)
18g.31524799A>CCA402135675DSG2n.756A>C
c.756A>C
c.925A>C (p.Asn309His)
c.391A>C (p.Asn131His)
18g.31524799A>GCA402135677DSG2n.756A>G
c.756A>G
c.925A>G (p.Asn309Asp)
c.391A>G (p.Asn131Asp)
18g.31524799A>TCA402135676DSG2n.756A>T
c.756A>T
c.925A>T (p.Asn309Tyr)
c.391A>T (p.Asn131Tyr)
18g.31524800A>CCA402135678DSG2n.757A>C
c.757A>C
c.926A>C (p.Asn309Thr)
c.392A>C (p.Asn131Thr)
18g.31524800A>GCA402135679DSG2n.757A>G
c.757A>G
c.926A>G (p.Asn309Ser)
c.392A>G (p.Asn131Ser)
18g.31524800A>TCA402135680DSG2n.757A>T
c.757A>T
c.926A>T (p.Asn309Ile)
c.392A>T (p.Asn131Ile)
18g.31524801T>ACA402135681DSG2n.758T>A
c.758T>A
c.927T>A (p.Asn309Lys)
c.393T>A (p.Asn131Lys)
18g.31524801T>CCA503599292DSG2n.758T>C
c.758T>C
c.927T>C (p.Asn309=)
c.393T>C (p.Asn131=)
18g.31524801T>GCA402135682DSG2n.758T>G
c.758T>G
c.927T>G (p.Asn309Lys)
c.393T>G (p.Asn131Lys)
18g.31524802T>ACA402135683DSG2n.759T>A
c.759T>A
c.928T>A (p.Phe310Ile)
c.394T>A (p.Phe132Ile)
18g.31524802T>CCA402135684DSG2n.759T>C
c.759T>C
c.928T>C (p.Phe310Leu)
c.394T>C (p.Phe132Leu)
18g.31524802T>GCA402135685DSG2n.759T>G
c.759T>G
c.928T>G (p.Phe310Val)
c.394T>G (p.Phe132Val)
 ClinVar dbSNP COSMIC
18g.31524802T=CA2293856968DSG2n.759T=
c.759T=
c.928T= (p.Phe310=)
c.394T= (p.Phe132=)
18g.31524803T>ACA402135686DSG2n.760T>A
c.760T>A
c.929T>A (p.Phe310Tyr)
c.395T>A (p.Phe132Tyr)
18g.31524803T>CCA402135687DSG2n.760T>C
c.760T>C
c.929T>C (p.Phe310Ser)
c.395T>C (p.Phe132Ser)
18g.31524803T>GCA402135688DSG2n.760T>G
c.760T>G
c.929T>G (p.Phe310Cys)
c.395T>G (p.Phe132Cys)
18g.31524804T>ACA402135689DSG2n.761T>A
c.761T>A
c.930T>A (p.Phe310Leu)
c.396T>A (p.Phe132Leu)
18g.31524804T>CCA050481DSG2n.761T>C
c.761T>C
c.930T>C (p.Phe310=)
c.396T>C (p.Phe132=)
 dbSNP ExAC gnomAD v2
18g.31524804T>GCA402135690DSG2n.761T>G
c.761T>G
c.930T>G (p.Phe310Leu)
c.396T>G (p.Phe132Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524804T=CA2293856970DSG2n.761T=
c.761T=
c.930T= (p.Phe310=)
c.396T= (p.Phe132=)
18g.31524805A=CA2293856972DSG2n.762A=
c.762A=
c.931A= (p.Thr311=)
c.397A= (p.Thr133=)
18g.31524805A>CCA402135691DSG2n.762A>C
c.762A>C
c.931A>C (p.Thr311Pro)
c.397A>C (p.Thr133Pro)
18g.31524805A>GCA050491DSG2n.762A>G
c.762A>G
c.931A>G (p.Thr311Ala)
c.397A>G (p.Thr133Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524805A>TCA402135692DSG2n.762A>T
c.762A>T
c.931A>T (p.Thr311Ser)
c.397A>T (p.Thr133Ser)
18g.31524806C>ACA402135693DSG2n.763C>A
c.763C>A
c.932C>A (p.Thr311Lys)
c.398C>A (p.Thr133Lys)
18g.31524806C>GCA402135694DSG2n.763C>G
c.763C>G
c.932C>G (p.Thr311Arg)
c.398C>G (p.Thr133Arg)
18g.31524806C>TCA402135695DSG2n.763C>T
c.763C>T
c.932C>T (p.Thr311Ile)
c.398C>T (p.Thr133Ile)
 gnomAD v4
18g.31524807A>CCA503599293DSG2n.764A>C
c.764A>C
c.933A>C (p.Thr311=)
c.399A>C (p.Thr133=)
18g.31524807A>GCA503599294DSG2n.764A>G
c.764A>G
c.933A>G (p.Thr311=)
c.399A>G (p.Thr133=)
 gnomAD v4 COSMIC
18g.31524807A>TCA503599295DSG2n.764A>T
c.764A>T
c.933A>T (p.Thr311=)
c.399A>T (p.Thr133=)
18g.31524808T>ACA402135696DSG2n.765T>A
c.765T>A
c.934T>A (p.Phe312Ile)
c.400T>A (p.Phe134Ile)
18g.31524808T>CCA402135697DSG2n.765T>C
c.765T>C
c.934T>C (p.Phe312Leu)
c.400T>C (p.Phe134Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524808T>GCA402135698DSG2n.765T>G
c.765T>G
c.934T>G (p.Phe312Val)
c.400T>G (p.Phe134Val)
18g.31524808T=CA2293856974DSG2n.765T=
c.765T=
c.934T= (p.Phe312=)
c.400T= (p.Phe134=)
18g.31524809T>ACA402135699DSG2n.766T>A
c.766T>A
c.935T>A (p.Phe312Tyr)
c.401T>A (p.Phe134Tyr)
18g.31524809T>CCA402135700DSG2n.766T>C
c.766T>C
c.935T>C (p.Phe312Ser)
c.401T>C (p.Phe134Ser)
 gnomAD v4
18g.31524809T>GCA402135701DSG2n.766T>G
c.766T>G
c.935T>G (p.Phe312Cys)
c.401T>G (p.Phe134Cys)
18g.31524810T>ACA402135702DSG2n.767T>A
c.767T>A
c.936T>A (p.Phe312Leu)
c.402T>A (p.Phe134Leu)
18g.31524810T>CCA503599296DSG2n.767T>C
c.767T>C
c.936T>C (p.Phe312=)
c.402T>C (p.Phe134=)
18g.31524810T>GCA402135703DSG2n.767T>G
c.767T>G
c.936T>G (p.Phe312Leu)
c.402T>G (p.Phe134Leu)
18g.31524811G>ACA402135706DSG2n.768G>A
c.768G>A
c.937G>A (p.Ala313Thr)
c.403G>A (p.Ala135Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524811G>CCA402135704DSG2n.768G>C
c.768G>C
c.937G>C (p.Ala313Pro)
c.403G>C (p.Ala135Pro)
 gnomAD v4
18g.31524811G=CA2293856975DSG2n.768G=
c.768G=
c.937G= (p.Ala313=)
c.403G= (p.Ala135=)
18g.31524811G>TCA402135705DSG2n.768G>T
c.768G>T
c.937G>T (p.Ala313Ser)
c.403G>T (p.Ala135Ser)
18g.31524812_31524818delCA2695227360DSG2n.769_775del
c.769_775del
c.938_944del (p.Ala313GlufsTer9)
c.404_410del (p.Ala135GlufsTer9)
18g.31524811_31524812insAAATGAAGGAGGTTATTTCCTTCA2573155226DSG2n.768_769insAAATGAAGGAGGTTATTTCCTT
c.768_769insAAATGAAGGAGGTTATTTCCTT
c.937_938insAAATGAAGGAGGTTATTTCCTT (p.Ala313GlufsTer12)
c.403_404insAAATGAAGGAGGTTATTTCCTT (p.Ala135GlufsTer12)
 dbSNP gnomAD v4
18g.31524812C>ACA402135707DSG2n.769C>A
c.769C>A
c.938C>A (p.Ala313Glu)
c.404C>A (p.Ala135Glu)
18g.31524812C=CA2293856977DSG2n.769C=
c.769C=
c.938C= (p.Ala313=)
c.404C= (p.Ala135=)
18g.31524812C>GCA402135708DSG2n.769C>G
c.769C>G
c.938C>G (p.Ala313Gly)
c.404C>G (p.Ala135Gly)
18g.31524812C>TCA402135709DSG2n.769C>T
c.769C>T
c.938C>T (p.Ala313Val)
c.404C>T (p.Ala135Val)
 ClinVar dbSNP
18g.31524813A=CA2293856979DSG2n.770A=
c.770A=
c.939A= (p.Ala313=)
c.405A= (p.Ala135=)
18g.31524813A>CCA503599299DSG2n.770A>C
c.770A>C
c.939A>C (p.Ala313=)
c.405A>C (p.Ala135=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524813A>GCA503599298DSG2n.770A>G
c.770A>G
c.939A>G (p.Ala313=)
c.405A>G (p.Ala135=)
 ClinVar gnomAD v4
18g.31524813A>TCA503599297DSG2n.770A>T
c.770A>T
c.939A>T (p.Ala313=)
c.405A>T (p.Ala135=)
18g.31524814T>ACA402135711DSG2n.771T>A
c.771T>A
c.940T>A (p.Ser314Thr)
c.406T>A (p.Ser136Thr)
18g.31524814T>CCA402135713DSG2n.771T>C
c.771T>C
c.940T>C (p.Ser314Pro)
c.406T>C (p.Ser136Pro)
18g.31524814T>GCA402135714DSG2n.771T>G
c.771T>G
c.940T>G (p.Ser314Ala)
c.406T>G (p.Ser136Ala)
18g.31524814_31524815insTTGAATTGGCA2641406235DSG2n.771_772insTTGAATTGG
c.771_772insTTGAATTGG
c.940_941insTTGAATTGG (p.Ser314delinsPheGluLeuAla)
c.406_407insTTGAATTGG (p.Ser136delinsPheGluLeuAla)
 gnomAD v4
18g.31524815C>ACA022361DSG2n.772C>A
c.772C>A
c.941C>A (p.Ser314Ter)
c.407C>A (p.Ser136Ter)
 ClinVar dbSNP gnomAD v4
18g.31524815C=CA2293856981DSG2n.772C=
c.772C=
c.941C= (p.Ser314=)
c.407C= (p.Ser136=)
18g.31524815C>GCA402135716DSG2n.772C>G
c.772C>G
c.941C>G (p.Ser314Ter)
c.407C>G (p.Ser136Ter)
18g.31524815C>TCA402135718DSG2n.772C>T
c.772C>T
c.941C>T (p.Ser314Leu)
c.407C>T (p.Ser136Leu)
18g.31524815_31524816insTGGCAAATTTTACATTTGAAATGACA2641406236DSG2n.772_773insTGGCAAATTTTACATTTGAAATGA
c.772_773insTGGCAAATTTTACATTTGAAATGA
c.941_942insTGGCAAATTTTACATTTGAAATGA (p.Ser315GlyfsTer6)
c.407_408insTGGCAAATTTTACATTTGAAATGA (p.Ser137GlyfsTer6)
 gnomAD v4
18g.31524816A=CA2293856983DSG2n.773A=
c.773A=
c.942A= (p.Ser314=)
c.408A= (p.Ser136=)
18g.31524816A>CCA503599300DSG2n.773A>C
c.773A>C
c.942A>C (p.Ser314=)
c.408A>C (p.Ser136=)
18g.31524816A>GCA050500DSG2n.773A>G
c.773A>G
c.942A>G (p.Ser314=)
c.408A>G (p.Ser136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524816A>TCA503599301DSG2n.773A>T
c.773A>T
c.942A>T (p.Ser314=)
c.408A>T (p.Ser136=)
18g.31524817G>ACA402135722DSG2n.774G>A
c.774G>A
c.943G>A (p.Gly315Arg)
c.409G>A (p.Gly137Arg)
18g.31524817G>CCA297732302DSG2n.774G>C
c.774G>C
c.943G>C (p.Gly315Arg)
c.409G>C (p.Gly137Arg)
 dbSNP
18g.31524817G=CA2293856985DSG2n.774G=
c.774G=
c.943G= (p.Gly315=)
c.409G= (p.Gly137=)
18g.31524817G>TCA402135721DSG2n.774G>T
c.774G>T
c.943G>T (p.Gly315Ter)
c.409G>T (p.Gly137Ter)
18g.31524818G>ACA402135724DSG2n.775G>A
c.775G>A
c.944G>A (p.Gly315Glu)
c.410G>A (p.Gly137Glu)
18g.31524818G>CCA402135725DSG2n.775G>C
c.775G>C
c.944G>C (p.Gly315Ala)
c.410G>C (p.Gly137Ala)
18g.31524818G>TCA402135726DSG2n.775G>T
c.775G>T
c.944G>T (p.Gly315Val)
c.410G>T (p.Gly137Val)
18g.31524819A>CCA503599302DSG2n.776A>C
c.776A>C
c.945A>C (p.Gly315=)
c.411A>C (p.Gly137=)
18g.31524819A>GCA503599303DSG2n.776A>G
c.776A>G
c.945A>G (p.Gly315=)
c.411A>G (p.Gly137=)
18g.31524819A>TCA503599304DSG2n.776A>T
c.776A>T
c.945A>T (p.Gly315=)
c.411A>T (p.Gly137=)
18g.31524820A>CCA402135727DSG2n.777A>C
c.777A>C
c.946A>C (p.Asn316His)
c.412A>C (p.Asn138His)
18g.31524820A>GCA402135728DSG2n.777A>G
c.777A>G
c.946A>G (p.Asn316Asp)
c.412A>G (p.Asn138Asp)
18g.31524820A>TCA402135729DSG2n.777A>T
c.777A>T
c.946A>T (p.Asn316Tyr)
c.412A>T (p.Asn138Tyr)
18g.31524821A=CA2293856987DSG2n.778A=
c.778A=
c.947A= (p.Asn316=)
c.413A= (p.Asn138=)
18g.31524821A>CCA402135730DSG2n.778A>C
c.778A>C
c.947A>C (p.Asn316Thr)
c.413A>C (p.Asn138Thr)
18g.31524821A>GCA402135732DSG2n.778A>G
c.778A>G
c.947A>G (p.Asn316Ser)
c.413A>G (p.Asn138Ser)
 dbSNP gnomAD v4
18g.31524821A>TCA402135733DSG2n.778A>T
c.778A>T
c.947A>T (p.Asn316Ile)
c.413A>T (p.Asn138Ile)
18g.31524822T>ACA402135735DSG2n.779T>A
c.779T>A
c.948T>A (p.Asn316Lys)
c.414T>A (p.Asn138Lys)
 COSMIC
18g.31524822T>CCA503599305DSG2n.779T>C
c.779T>C
c.948T>C (p.Asn316=)
c.414T>C (p.Asn138=)
 gnomAD v4
18g.31524822T>GCA402135738DSG2n.779T>G
c.779T>G
c.948T>G (p.Asn316Lys)
c.414T>G (p.Asn138Lys)
18g.31524823G>ACA050508DSG2n.780G>A
c.780G>A
c.949G>A (p.Glu317Lys)
c.415G>A (p.Glu139Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.31524823G>CCA402135742DSG2n.780G>C
c.780G>C
c.949G>C (p.Glu317Gln)
c.415G>C (p.Glu139Gln)
18g.31524823G=CA2293856988DSG2n.780G=
c.780G=
c.949G= (p.Glu317=)
c.415G= (p.Glu139=)
18g.31524823G>TCA402135740DSG2n.780G>T
c.780G>T
c.949G>T (p.Glu317Ter)
c.415G>T (p.Glu139Ter)
18g.31524824A>CCA402135744DSG2n.781A>C
c.781A>C
c.950A>C (p.Glu317Ala)
c.416A>C (p.Glu139Ala)
18g.31524824A>GCA402135745DSG2n.781A>G
c.781A>G
c.950A>G (p.Glu317Gly)
c.416A>G (p.Glu139Gly)
18g.31524824A>TCA402135746DSG2n.781A>T
c.781A>T
c.950A>T (p.Glu317Val)
c.416A>T (p.Glu139Val)
18g.31524824_31524827delinsAAGGCA2293856990DSG2n.781_784delinsAAGG
c.781_784delinsAAGG
c.950_953delinsAAGG (p.Glu317=)
c.416_419delinsAAGG (p.Glu139=)
18g.31524825A>CCA402135747DSG2n.782A>C
c.782A>C
c.951A>C (p.Glu317Asp)
c.417A>C (p.Glu139Asp)
18g.31524825A>GCA503599306DSG2n.782A>G
c.782A>G
c.951A>G (p.Glu317=)
c.417A>G (p.Glu139=)
18g.31524825A>TCA402135748DSG2n.782A>T
c.782A>T
c.951A>T (p.Glu317Asp)
c.417A>T (p.Glu139Asp)
18g.31524828_31524830delCA629453648DSG2n.785_787del
c.785_787del
c.954_956del (p.Gly319del)
c.420_422del (p.Gly141del)
 dbSNP gnomAD v2 gnomAD v4
18g.31524826G>ACA402135752DSG2n.783G>A
c.783G>A
c.952G>A (p.Gly318Arg)
c.418G>A (p.Gly140Arg)
18g.31524826G>CCA402135749DSG2n.783G>C
c.783G>C
c.952G>C (p.Gly318Arg)
c.418G>C (p.Gly140Arg)
18g.31524826G=CA2293856992DSG2n.783G=
c.783G=
c.952G= (p.Gly318=)
c.418G= (p.Gly140=)
18g.31524826G>TCA402135751DSG2n.783G>T
c.783G>T
c.952G>T (p.Gly318Ter)
c.418G>T (p.Gly140Ter)
 dbSNP
18g.31524827G>ACA402135754DSG2n.784G>A
c.784G>A
c.953G>A (p.Gly318Glu)
c.419G>A (p.Gly140Glu)
 gnomAD v4
18g.31524827G>CCA402135755DSG2n.784G>C
c.784G>C
c.953G>C (p.Gly318Ala)
c.419G>C (p.Gly140Ala)
18g.31524827G>TCA402135756DSG2n.784G>T
c.784G>T
c.953G>T (p.Gly318Val)
c.419G>T (p.Gly140Val)
18g.31524828A=CA2293856993DSG2n.785A=
c.785A=
c.954A= (p.Gly318=)
c.420A= (p.Gly140=)
18g.31524828A>CCA503599307DSG2n.785A>C
c.785A>C
c.954A>C (p.Gly318=)
c.420A>C (p.Gly140=)
18g.31524828A>GCA503599308DSG2n.785A>G
c.785A>G
c.954A>G (p.Gly318=)
c.420A>G (p.Gly140=)
 dbSNP gnomAD v4
18g.31524828A>TCA503599309DSG2n.785A>T
c.785A>T
c.954A>T (p.Gly318=)
c.420A>T (p.Gly140=)
18g.31524829G>ACA16620678DSG2n.786G>A
c.786G>A
c.955G>A (p.Gly319Ser)
c.421G>A (p.Gly141Ser)
 ClinVar dbSNP
18g.31524829G>CCA402135758DSG2n.786G>C
c.786G>C
c.955G>C (p.Gly319Arg)
c.421G>C (p.Gly141Arg)
18g.31524829G=CA2293856996DSG2n.786G=
c.786G=
c.955G= (p.Gly319=)
c.421G= (p.Gly141=)
18g.31524829G>TCA402135760DSG2n.786G>T
c.786G>T
c.955G>T (p.Gly319Cys)
c.421G>T (p.Gly141Cys)
18g.31524830G>ACA402135762DSG2n.787G>A
c.787G>A
c.956G>A (p.Gly319Asp)
c.422G>A (p.Gly141Asp)
 dbSNP gnomAD v2 gnomAD v4
18g.31524830G>CCA402135764DSG2n.787G>C
c.787G>C
c.956G>C (p.Gly319Ala)
c.422G>C (p.Gly141Ala)
18g.31524830G=CA2293856998DSG2n.787G=
c.787G=
c.956G= (p.Gly319=)
c.422G= (p.Gly141=)
18g.31524830G>TCA402135761DSG2n.787G>T
c.787G>T
c.956G>T (p.Gly319Val)
c.422G>T (p.Gly141Val)
18g.31524831T>ACA503599310DSG2n.788T>A
c.788T>A
c.957T>A (p.Gly319=)
c.423T>A (p.Gly141=)
18g.31524831T>CCA503599311DSG2n.788T>C
c.788T>C
c.957T>C (p.Gly319=)
c.423T>C (p.Gly141=)
18g.31524831T>GCA503599312DSG2n.788T>G
c.788T>G
c.957T>G (p.Gly319=)
c.423T>G (p.Gly141=)
18g.31524832T>ACA402135768DSG2n.789T>A
c.789T>A
c.958T>A (p.Tyr320Asn)
c.424T>A (p.Tyr142Asn)
18g.31524832T>CCA402135766DSG2n.789T>C
c.789T>C
c.958T>C (p.Tyr320His)
c.424T>C (p.Tyr142His)
 dbSNP gnomAD v2 gnomAD v4
18g.31524832T>GCA402135769DSG2n.789T>G
c.789T>G
c.958T>G (p.Tyr320Asp)
c.424T>G (p.Tyr142Asp)
18g.31524832T=CA2293857000DSG2n.789T=
c.789T=
c.958T= (p.Tyr320=)
c.424T= (p.Tyr142=)
18g.31524833A=CA2293857001DSG2n.790A=
c.790A=
c.959A= (p.Tyr320=)
c.425A= (p.Tyr142=)
18g.31524833A>CCA402135770DSG2n.790A>C
c.790A>C
c.959A>C (p.Tyr320Ser)
c.425A>C (p.Tyr142Ser)
18g.31524833A>GCA050519DSG2n.790A>G
c.790A>G
c.959A>G (p.Tyr320Cys)
c.425A>G (p.Tyr142Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524833A>TCA402135772DSG2n.790A>T
c.790A>T
c.959A>T (p.Tyr320Phe)
c.425A>T (p.Tyr142Phe)
18g.31524834T>ACA402135774DSG2n.791T>A
c.791T>A
c.960T>A (p.Tyr320Ter)
c.426T>A (p.Tyr142Ter)
18g.31524834T>CCA050529DSG2n.791T>C
c.791T>C
c.960T>C (p.Tyr320=)
c.426T>C (p.Tyr142=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524834T>GCA402135776DSG2n.791T>G
c.791T>G
c.960T>G (p.Tyr320Ter)
c.426T>G (p.Tyr142Ter)
18g.31524834T=CA2293857003DSG2n.791T=
c.791T=
c.960T= (p.Tyr320=)
c.426T= (p.Tyr142=)
18g.31524835T>ACA050538DSG2n.792T>A
c.792T>A
c.961T>A (p.Phe321Ile)
c.427T>A (p.Phe143Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524835T>CCA402135779DSG2n.792T>C
c.792T>C
c.961T>C (p.Phe321Leu)
c.427T>C (p.Phe143Leu)
18g.31524835T>GCA402135782DSG2n.792T>G
c.792T>G
c.961T>G (p.Phe321Val)
c.427T>G (p.Phe143Val)
18g.31524835T=CA2293857006DSG2n.792T=
c.792T=
c.961T= (p.Phe321=)
c.427T= (p.Phe143=)
18g.31524836T>ACA402135784DSG2n.793T>A
c.793T>A
c.962T>A (p.Phe321Tyr)
c.428T>A (p.Phe143Tyr)
18g.31524836T>CCA402135786DSG2n.793T>C
c.793T>C
c.962T>C (p.Phe321Ser)
c.428T>C (p.Phe143Ser)
18g.31524836T>GCA402135788DSG2n.793T>G
c.793T>G
c.962T>G (p.Phe321Cys)
c.428T>G (p.Phe143Cys)
18g.31524837C>ACA402135791DSG2n.794C>A
c.794C>A
c.963C>A (p.Phe321Leu)
c.429C>A (p.Phe143Leu)
18g.31524837C>GCA402135793DSG2n.794C>G
c.794C>G
c.963C>G (p.Phe321Leu)
c.429C>G (p.Phe143Leu)
18g.31524837C>TCA503599313DSG2n.794C>T
c.794C>T
c.963C>T (p.Phe321=)
c.429C>T (p.Phe143=)
18g.31524838C>ACA402135795DSG2n.795C>A
c.795C>A
c.964C>A (p.His322Asn)
c.430C>A (p.His144Asn)
18g.31524838C=CA2293857008DSG2n.795C=
c.795C=
c.964C= (p.His322=)
c.430C= (p.His144=)
18g.31524838C>GCA402135797DSG2n.795C>G
c.795C>G
c.964C>G (p.His322Asp)
c.430C>G (p.His144Asp)
18g.31524838C>TCA050550DSG2n.795C>T
c.795C>T
c.964C>T (p.His322Tyr)
c.430C>T (p.His144Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524839A=CA2293857010DSG2n.796A=
c.796A=
c.965A= (p.His322=)
c.431A= (p.His144=)
18g.31524839A>CCA402135808DSG2n.796A>C
c.796A>C
c.965A>C (p.His322Pro)
c.431A>C (p.His144Pro)
18g.31524839A>GCA297732340DSG2n.796A>G
c.796A>G
c.965A>G (p.His322Arg)
c.431A>G (p.His144Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524839A>TCA402135812DSG2n.796A>T
c.796A>T
c.965A>T (p.His322Leu)
c.431A>T (p.His144Leu)
18g.31524840C>ACA402135815DSG2n.797C>A
c.797C>A
c.966C>A (p.His322Gln)
c.432C>A (p.His144Gln)
 dbSNP
18g.31524840C=CA2293857012DSG2n.797C=
c.797C=
c.966C= (p.His322=)
c.432C= (p.His144=)
18g.31524840C>GCA402135817DSG2n.797C>G
c.797C>G
c.966C>G (p.His322Gln)
c.432C>G (p.His144Gln)
18g.31524840C>TCA503599314DSG2n.797C>T
c.797C>T
c.966C>T (p.His322=)
c.432C>T (p.His144=)
18g.31524841A=CA2293857014DSG2n.798A=
c.798A=
c.967A= (p.Ile323=)
c.433A= (p.Ile145=)
18g.31524841A>CCA402135820DSG2n.798A>C
c.798A>C
c.967A>C (p.Ile323Leu)
c.433A>C (p.Ile145Leu)
18g.31524841A>GCA10587911DSG2n.798A>G
c.798A>G
c.967A>G (p.Ile323Val)
c.433A>G (p.Ile145Val)
 ClinVar dbSNP gnomAD v4
18g.31524841A>TCA402135821DSG2n.798A>T
c.798A>T
c.967A>T (p.Ile323Leu)
c.433A>T (p.Ile145Leu)
18g.31524842T>ACA402135823DSG2n.799T>A
c.799T>A
c.968T>A (p.Ile323Lys)
c.434T>A (p.Ile145Lys)
18g.31524842T>CCA050560DSG2n.799T>C
c.799T>C
c.968T>C (p.Ile323Thr)
c.434T>C (p.Ile145Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524842T>GCA402135822DSG2n.799T>G
c.799T>G
c.968T>G (p.Ile323Arg)
c.434T>G (p.Ile145Arg)
 ClinVar dbSNP
18g.31524842T=CA2293857016DSG2n.799T=
c.799T=
c.968T= (p.Ile323=)
c.434T= (p.Ile145=)
18g.31524843A=CA2293857018DSG2n.800A=
c.800A=
c.969A= (p.Ile323=)
c.435A= (p.Ile145=)
18g.31524843A>CCA503599315DSG2n.800A>C
c.800A>C
c.969A>C (p.Ile323=)
c.435A>C (p.Ile145=)
18g.31524843A>GCA402135825DSG2n.800A>G
c.800A>G
c.969A>G (p.Ile323Met)
c.435A>G (p.Ile145Met)
 dbSNP
18g.31524843A>TCA503599316DSG2n.800A>T
c.800A>T
c.969A>T (p.Ile323=)
c.435A>T (p.Ile145=)
18g.31524846_31524851delCA658782394DSG2n.803_808del
c.803_808del
c.972_977del (p.Glu324_Thr325del)
c.438_443del (p.Glu146_Thr147del)
18g.31524844G>ACA402135826DSG2n.801G>A
c.801G>A
c.970G>A (p.Glu324Lys)
c.436G>A (p.Glu146Lys)
 gnomAD v4
18g.31524844G>CCA402135827DSG2n.801G>C
c.801G>C
c.970G>C (p.Glu324Gln)
c.436G>C (p.Glu146Gln)
18g.31524844G>TCA402135829DSG2n.801G>T
c.801G>T
c.970G>T (p.Glu324Ter)
c.436G>T (p.Glu146Ter)
18g.31524845A>CCA402135830DSG2n.802A>C
c.802A>C
c.971A>C (p.Glu324Ala)
c.437A>C (p.Glu146Ala)
18g.31524845A>GCA402135833DSG2n.802A>G
c.802A>G
c.971A>G (p.Glu324Gly)
c.437A>G (p.Glu146Gly)
18g.31524845A>TCA402135835DSG2n.802A>T
c.802A>T
c.971A>T (p.Glu324Val)
c.437A>T (p.Glu146Val)
18g.31524846A>CCA402135838DSG2n.803A>C
c.803A>C
c.972A>C (p.Glu324Asp)
c.438A>C (p.Glu146Asp)
 ClinVar
18g.31524846A>GCA503599317DSG2n.803A>G
c.803A>G
c.972A>G (p.Glu324=)
c.438A>G (p.Glu146=)
18g.31524846A>TCA402135839DSG2n.803A>T
c.803A>T
c.972A>T (p.Glu324Asp)
c.438A>T (p.Glu146Asp)
18g.31524847A=CA2293857020DSG2n.804A=
c.804A=
c.973A= (p.Thr325=)
c.439A= (p.Thr147=)
18g.31524847A>CCA402135841DSG2n.804A>C
c.804A>C
c.973A>C (p.Thr325Pro)
c.439A>C (p.Thr147Pro)
18g.31524847A>GCA050566DSG2n.804A>G
c.804A>G
c.973A>G (p.Thr325Ala)
c.439A>G (p.Thr147Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524847A>TCA402135843DSG2n.804A>T
c.804A>T
c.973A>T (p.Thr325Ser)
c.439A>T (p.Thr147Ser)
18g.31524848C>ACA402135848DSG2n.805C>A
c.805C>A
c.974C>A (p.Thr325Lys)
c.440C>A (p.Thr147Lys)
18g.31524848C>GCA402135849DSG2n.805C>G
c.805C>G
c.974C>G (p.Thr325Arg)
c.440C>G (p.Thr147Arg)
18g.31524848C>TCA402135846DSG2n.805C>T
c.805C>T
c.974C>T (p.Thr325Ile)
c.440C>T (p.Thr147Ile)
 gnomAD v4
18g.31524849A>CCA503599318DSG2n.806A>C
c.806A>C
c.975A>C (p.Thr325=)
c.441A>C (p.Thr147=)
18g.31524849A>GCA503599319DSG2n.806A>G
c.806A>G
c.975A>G (p.Thr325=)
c.441A>G (p.Thr147=)
18g.31524849A>TCA503599320DSG2n.806A>T
c.806A>T
c.975A>T (p.Thr325=)
c.441A>T (p.Thr147=)
18g.31524850G>ACA402135853DSG2n.807G>A
c.807G>A
c.976G>A (p.Asp326Asn)
c.442G>A (p.Asp148Asn)
 gnomAD v4
18g.31524850G>CCA402135855DSG2n.807G>C
c.807G>C
c.976G>C (p.Asp326His)
c.442G>C (p.Asp148His)
18g.31524850G>TCA402135857DSG2n.807G>T
c.807G>T
c.976G>T (p.Asp326Tyr)
c.442G>T (p.Asp148Tyr)

Number of alleles fetched