Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.50910735_50916641delCA1139667543BMP15c.-49_*34del
ClinVar
Xg.50916077G>ACA10416580BMP15c.649G>A (p.Gly217Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50916077G>CCA413198373BMP15c.649G>C (p.Gly217Arg)
gnomAD v4
Xg.50916077G=CA2429025836BMP15c.649G= (p.Gly217=)
Xg.50916077G>TCA413198374BMP15c.649G>T (p.Gly217Cys)
COSMIC
Xg.50916077_50916078delCA2550810081BMP15c.649_650del (p.Gly217SerfsTer2)
Xg.50916078G>ACA10416581BMP15c.650G>A (p.Gly217Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50916078G>CCA413198376BMP15c.650G>C (p.Gly217Ala)
Xg.50916078G=CA2429025837BMP15c.650G= (p.Gly217=)
Xg.50916078G>TCA413198375BMP15c.650G>T (p.Gly217Val)
Xg.50916079T>ACA516680983BMP15c.651T>A (p.Gly217=)
Xg.50916079T>CCA516680984BMP15c.651T>C (p.Gly217=)
Xg.50916079T>GCA516680985BMP15c.651T>G (p.Gly217=)
Xg.50916080C>ACA413198377BMP15c.652C>A (p.Leu218Ile)
Xg.50916080C=CA2429025838BMP15c.652C= (p.Leu218=)
Xg.50916080C>GCA413198378BMP15c.652C>G (p.Leu218Val)
Xg.50916080C>TCA10416582BMP15c.652C>T (p.Leu218Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50916081T>ACA413198379BMP15c.653T>A (p.Leu218His)
Xg.50916081T>CCA413198380BMP15c.653T>C (p.Leu218Pro)
Xg.50916081T>GCA413198381BMP15c.653T>G (p.Leu218Arg)
Xg.50916082T>ACA516680993BMP15c.654T>A (p.Leu218=)
Xg.50916082T>CCA516680995BMP15c.654T>C (p.Leu218=)
Xg.50916082T>GCA516680994BMP15c.654T>G (p.Leu218=)
Xg.50916083G>ACA413198384BMP15c.655G>A (p.Glu219Lys)
Xg.50916083G>CCA413198382BMP15c.655G>C (p.Glu219Gln)
gnomAD v4
Xg.50916083G>TCA413198383BMP15c.655G>T (p.Glu219Ter)
Xg.50916084A>CCA413198385BMP15c.656A>C (p.Glu219Ala)
Xg.50916084A>GCA413198386BMP15c.656A>G (p.Glu219Gly)
Xg.50916084A>TCA413198387BMP15c.656A>T (p.Glu219Val)
Xg.50916085G>ACA516680999BMP15c.657G>A (p.Glu219=)
Xg.50916085G>CCA413198388BMP15c.657G>C (p.Glu219Asp)
gnomAD v4
Xg.50916085G>TCA413198389BMP15c.657G>T (p.Glu219Asp)
Xg.50916086C>ACA413198392BMP15c.658C>A (p.Leu220Ile)
Xg.50916086C>GCA413198390BMP15c.658C>G (p.Leu220Val)
Xg.50916086C>TCA413198391BMP15c.658C>T (p.Leu220Phe)
Xg.50916087T>ACA413198393BMP15c.659T>A (p.Leu220His)
Xg.50916087T>CCA413198394BMP15c.659T>C (p.Leu220Pro)
Xg.50916087T>GCA413198395BMP15c.659T>G (p.Leu220Arg)
Xg.50916088C>ACA516681003BMP15c.660C>A (p.Leu220=)
Xg.50916088C>GCA516681005BMP15c.660C>G (p.Leu220=)
Xg.50916088C>TCA516681006BMP15c.660C>T (p.Leu220=)
Xg.50916088_50916089insCGGCA2532001857BMP15c.660_661insCGG (p.Leu220_Trp221insArg)
Xg.50916089T>ACA413198396BMP15c.661T>A (p.Trp221Arg)
Xg.50916089T>CCA10416583BMP15c.661T>C (p.Trp221Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50916089T>GCA10416584BMP15c.661T>G (p.Trp221Gly)
dbSNP ExAC gnomAD v2
Xg.50916089T=CA2429025839BMP15c.661T= (p.Trp221=)
Xg.50916090G>ACA413198397BMP15c.662G>A (p.Trp221Ter)
Xg.50916090G>CCA413198398BMP15c.662G>C (p.Trp221Ser)
Xg.50916090G>TCA413198399BMP15c.662G>T (p.Trp221Leu)
Xg.50916091G>ACA413198400BMP15c.663G>A (p.Trp221Ter)
Xg.50916091G>CCA413198401BMP15c.663G>C (p.Trp221Cys)
Xg.50916091G>TCA413198402BMP15c.663G>T (p.Trp221Cys)
Xg.50916092C>ACA413198403BMP15c.664C>A (p.His222Asn)
Xg.50916092C>GCA413198405BMP15c.664C>G (p.His222Asp)
Xg.50916092C>TCA413198404BMP15c.664C>T (p.His222Tyr)
Xg.50916093A>CCA413198406BMP15c.665A>C (p.His222Pro)
Xg.50916093A>GCA413198407BMP15c.665A>G (p.His222Arg)
Xg.50916093A>TCA413198408BMP15c.665A>T (p.His222Leu)
Xg.50916094T>ACA413198409BMP15c.666T>A (p.His222Gln)
Xg.50916094T>CCA516681014BMP15c.666T>C (p.His222=)
dbSNP gnomAD v4
Xg.50916094T>GCA413198410BMP15c.666T>G (p.His222Gln)
Xg.50916094T=CA2429025840BMP15c.666T= (p.His222=)
Xg.50916095G>ACA10416585BMP15c.667G>A (p.Gly223Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50916095G>CCA413198411BMP15c.667G>C (p.Gly223Arg)
Xg.50916095G=CA2429025841BMP15c.667G= (p.Gly223=)
Xg.50916095G>TCA413198412BMP15c.667G>T (p.Gly223Cys)
Xg.50916096G>ACA413198413BMP15c.668G>A (p.Gly223Asp)
dbSNP gnomAD v3 gnomAD v4
Xg.50916096G>CCA413198414BMP15c.668G>C (p.Gly223Ala)
Xg.50916096G=CA2429025842BMP15c.668G= (p.Gly223=)
Xg.50916096G>TCA413198415BMP15c.668G>T (p.Gly223Val)
Xg.50916097C>ACA516681018BMP15c.669C>A (p.Gly223=)
gnomAD v4
Xg.50916097C=CA2429025843BMP15c.669C= (p.Gly223=)
Xg.50916097C>GCA516681019BMP15c.669C>G (p.Gly223=)
Xg.50916097C>TCA10416586BMP15c.669C>T (p.Gly223=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50916098A>CCA413198418BMP15c.670A>C (p.Thr224Pro)
Xg.50916098A>GCA413198416BMP15c.670A>G (p.Thr224Ala)
Xg.50916098A>TCA413198417BMP15c.670A>T (p.Thr224Ser)
Xg.50916099C>ACA413198419BMP15c.671C>A (p.Thr224Asn)
Xg.50916099C>GCA413198420BMP15c.671C>G (p.Thr224Ser)
Xg.50916099C>TCA413198421BMP15c.671C>T (p.Thr224Ile)
Xg.50916100T>ACA516681027BMP15c.672T>A (p.Thr224=)
Xg.50916100T>CCA516681028BMP15c.672T>C (p.Thr224=)
Xg.50916100T>GCA516681029BMP15c.672T>G (p.Thr224=)
Xg.50916101T>ACA413198422BMP15c.673T>A (p.Ser225Thr)
Xg.50916101T>CCA413198423BMP15c.673T>C (p.Ser225Pro)
Xg.50916101T>GCA413198424BMP15c.673T>G (p.Ser225Ala)
Xg.50916102C>ACA413198425BMP15c.674C>A (p.Ser225Ter)
Xg.50916102C>GCA413198426BMP15c.674C>G (p.Ser225Ter)
Xg.50916102C>TCA413198427BMP15c.674C>T (p.Ser225Leu)
COSMIC
Xg.50916103A=CA2429025844BMP15c.675A= (p.Ser225=)
Xg.50916103A>CCA516681034BMP15c.675A>C (p.Ser225=)
Xg.50916103A>GCA516681038BMP15c.675A>G (p.Ser225=)
dbSNP gnomAD v2
Xg.50916103A>TCA516681036BMP15c.675A>T (p.Ser225=)
Xg.50916104T>ACA413198428BMP15c.676T>A (p.Ser226Thr)
Xg.50916104T>CCA413198429BMP15c.676T>C (p.Ser226Pro)
dbSNP
Xg.50916104T>GCA413198430BMP15c.676T>G (p.Ser226Ala)
Xg.50916104T=CA2429025845BMP15c.676T= (p.Ser226=)
Xg.50916105C>ACA413198432BMP15c.677C>A (p.Ser226Tyr)
Xg.50916105C=CA2429025846BMP15c.677C= (p.Ser226=)
Xg.50916105C>GCA413198433BMP15c.677C>G (p.Ser226Cys)
Xg.50916105C>TCA413198431BMP15c.677C>T (p.Ser226Phe)
dbSNP gnomAD v2 gnomAD v4
Xg.50916106C>ACA516681048BMP15c.678C>A (p.Ser226=)
COSMIC
Xg.50916106C>GCA516681050BMP15c.678C>G (p.Ser226=)
Xg.50916106C>TCA516681051BMP15c.678C>T (p.Ser226=)
gnomAD v4
Xg.50916107T>ACA413198435BMP15c.679T>A (p.Leu227Met)
Xg.50916107T>CCA516681055BMP15c.679T>C (p.Leu227=)
dbSNP gnomAD v2 gnomAD v4
Xg.50916107T>GCA413198434BMP15c.679T>G (p.Leu227Val)
Xg.50916107T=CA2429025847BMP15c.679T= (p.Leu227=)
Xg.50916108T>ACA413198437BMP15c.680T>A (p.Leu227Ter)
Xg.50916108T>CCA413198436BMP15c.680T>C (p.Leu227Ser)
gnomAD v4
Xg.50916108T>GCA413198438BMP15c.680T>G (p.Leu227Trp)
Xg.50916109G>ACA516681060BMP15c.681G>A (p.Leu227=)
gnomAD v4
Xg.50916109G>CCA413198439BMP15c.681G>C (p.Leu227Phe)
COSMIC
Xg.50916109G>TCA413198440BMP15c.681G>T (p.Leu227Phe)
Xg.50916110G>ACA413198441BMP15c.682G>A (p.Asp228Asn)
Xg.50916110G>CCA413198442BMP15c.682G>C (p.Asp228His)
Xg.50916110G>TCA413198443BMP15c.682G>T (p.Asp228Tyr)
Xg.50916111A>CCA413198444BMP15c.683A>C (p.Asp228Ala)
Xg.50916111A>GCA413198445BMP15c.683A>G (p.Asp228Gly)
gnomAD v4
Xg.50916111A>TCA413198446BMP15c.683A>T (p.Asp228Val)
Xg.50916112C>ACA413198447BMP15c.684C>A (p.Asp228Glu)
Xg.50916112C>GCA413198448BMP15c.684C>G (p.Asp228Glu)
Xg.50916112C>TCA516681068BMP15c.684C>T (p.Asp228=)
gnomAD v4
Xg.50916113A>CCA413198449BMP15c.685A>C (p.Ile229Leu)
gnomAD v4
Xg.50916113A>GCA413198450BMP15c.685A>G (p.Ile229Val)
Xg.50916113A>TCA413198451BMP15c.685A>T (p.Ile229Phe)
Xg.50916114T>ACA413198452BMP15c.686T>A (p.Ile229Asn)
Xg.50916114T>CCA413198454BMP15c.686T>C (p.Ile229Thr)
dbSNP gnomAD v4
Xg.50916114T>GCA413198453BMP15c.686T>G (p.Ile229Ser)
Xg.50916114T=CA2429025848BMP15c.686T= (p.Ile229=)
Xg.50916115T>ACA516681076BMP15c.687T>A (p.Ile229=)
gnomAD v4
Xg.50916115T>CCA516681077BMP15c.687T>C (p.Ile229=)
Xg.50916115T>GCA413198455BMP15c.687T>G (p.Ile229Met)
Xg.50916116G>ACA10416587BMP15c.688G>A (p.Ala230Thr)
dbSNP ExAC gnomAD v4
Xg.50916116G>CCA413198456BMP15c.688G>C (p.Ala230Pro)
Xg.50916116G=CA2429025849BMP15c.688G= (p.Ala230=)
Xg.50916116G>TCA413198457BMP15c.688G>T (p.Ala230Ser)
Xg.50916117C>ACA413198458BMP15c.689C>A (p.Ala230Asp)
Xg.50916117C>GCA413198459BMP15c.689C>G (p.Ala230Gly)
Xg.50916117C>TCA413198460BMP15c.689C>T (p.Ala230Val)
Xg.50916118C>ACA516681082BMP15c.690C>A (p.Ala230=)
Xg.50916118C>GCA516681085BMP15c.690C>G (p.Ala230=)
Xg.50916118C>TCA516681087BMP15c.690C>T (p.Ala230=)
Xg.50916119T>ACA413198461BMP15c.691T>A (p.Phe231Ile)
Xg.50916119T>CCA413198462BMP15c.691T>C (p.Phe231Leu)
Xg.50916119T>GCA413198463BMP15c.691T>G (p.Phe231Val)
Xg.50916120T>ACA413198466BMP15c.692T>A (p.Phe231Tyr)
Xg.50916120T>CCA413198465BMP15c.692T>C (p.Phe231Ser)
Xg.50916120T>GCA413198464BMP15c.692T>G (p.Phe231Cys)
Xg.50916121C>ACA413198467BMP15c.693C>A (p.Phe231Leu)
Xg.50916121C>GCA413198468BMP15c.693C>G (p.Phe231Leu)
Xg.50916121C>TCA516681099BMP15c.693C>T (p.Phe231=)
gnomAD v4
Xg.50916122T>ACA413198469BMP15c.694T>A (p.Leu232Met)
Xg.50916122T>CCA516681100BMP15c.694T>C (p.Leu232=)
dbSNP gnomAD v4
Xg.50916122T>GCA413198470BMP15c.694T>G (p.Leu232Val)
Xg.50916122T=CA2429025850BMP15c.694T= (p.Leu232=)
Xg.50916123T>ACA413198471BMP15c.695T>A (p.Leu232Ter)
Xg.50916123T>CCA413198472BMP15c.695T>C (p.Leu232Ser)
Xg.50916123T>GCA413198473BMP15c.695T>G (p.Leu232Trp)
Xg.50916124G>ACA516681104BMP15c.696G>A (p.Leu232=)
Xg.50916124G>CCA413198474BMP15c.696G>C (p.Leu232Phe)
Xg.50916124G>TCA413198475BMP15c.696G>T (p.Leu232Phe)
Xg.50916125T>ACA413198476BMP15c.697T>A (p.Leu233Ile)
Xg.50916125T>CCA516681107BMP15c.697T>C (p.Leu233=)
Xg.50916125T>GCA413198477BMP15c.697T>G (p.Leu233Val)
Xg.50916126T>ACA413198478BMP15c.698T>A (p.Leu233Ter)
Xg.50916126T>CCA413198479BMP15c.698T>C (p.Leu233Ser)
Xg.50916126T>GCA413198480BMP15c.698T>G (p.Leu233Ter)
Xg.50916127A>CCA413198481BMP15c.699A>C (p.Leu233Phe)
Xg.50916127A>GCA516681110BMP15c.699A>G (p.Leu233=)
Xg.50916127A>TCA413198482BMP15c.699A>T (p.Leu233Phe)
Xg.50916128C>ACA413198483BMP15c.700C>A (p.Leu234Ile)
Xg.50916128C>GCA413198484BMP15c.700C>G (p.Leu234Val)
Xg.50916128C>TCA413198485BMP15c.700C>T (p.Leu234Phe)
gnomAD v4
Xg.50916129T>ACA413198486BMP15c.701T>A (p.Leu234His)
gnomAD v4
Xg.50916129T>CCA413198487BMP15c.701T>C (p.Leu234Pro)
dbSNP gnomAD v2 gnomAD v4
Xg.50916129T>GCA413198488BMP15c.701T>G (p.Leu234Arg)
Xg.50916129T=CA2429025851BMP15c.701T= (p.Leu234=)
Xg.50916130C>ACA516681119BMP15c.702C>A (p.Leu234=)
Xg.50916130C=CA2429025852BMP15c.702C= (p.Leu234=)
Xg.50916130C>GCA516681120BMP15c.702C>G (p.Leu234=)
dbSNP gnomAD v2 gnomAD v4
Xg.50916130C>TCA516681121BMP15c.702C>T (p.Leu234=)
dbSNP gnomAD v4
Xg.50916131T>ACA413198489BMP15c.703T>A (p.Tyr235Asn)
Xg.50916131T>CCA413198490BMP15c.703T>C (p.Tyr235His)
Xg.50916131T>GCA413198491BMP15c.703T>G (p.Tyr235Asp)
Xg.50916132A=CA2429025853BMP15c.704A= (p.Tyr235=)
Xg.50916132A>CCA413198492BMP15c.704A>C (p.Tyr235Ser)
dbSNP gnomAD v2
Xg.50916132A>GCA121500BMP15c.704A>G (p.Tyr235Cys)
ClinVar dbSNP gnomAD v4
Xg.50916132A>TCA413198493BMP15c.704A>T (p.Tyr235Phe)
gnomAD v4
Xg.50916133T>ACA413198495BMP15c.705T>A (p.Tyr235Ter)
Xg.50916133T>CCA516681132BMP15c.705T>C (p.Tyr235=)
gnomAD v4
Xg.50916133T>GCA413198494BMP15c.705T>G (p.Tyr235Ter)
Xg.50916134T>ACA413198496BMP15c.706T>A (p.Phe236Ile)
Xg.50916134T>CCA413198498BMP15c.706T>C (p.Phe236Leu)
gnomAD v3 gnomAD v4
Xg.50916134T>GCA413198497BMP15c.706T>G (p.Phe236Val)
Xg.50916135T>ACA413198499BMP15c.707T>A (p.Phe236Tyr)
Xg.50916135T>CCA413198500BMP15c.707T>C (p.Phe236Ser)
Xg.50916135T>GCA413198501BMP15c.707T>G (p.Phe236Cys)
Xg.50916136C>ACA413198502BMP15c.708C>A (p.Phe236Leu)
Xg.50916136C>GCA413198503BMP15c.708C>G (p.Phe236Leu)
Xg.50916136C>TCA516681139BMP15c.708C>T (p.Phe236=)
Xg.50916137A>CCA413198504BMP15c.709A>C (p.Asn237His)
Xg.50916137A>GCA413198505BMP15c.709A>G (p.Asn237Asp)
Xg.50916137A>TCA413198506BMP15c.709A>T (p.Asn237Tyr)
Xg.50916138A=CA2429025854BMP15c.710A= (p.Asn237=)
Xg.50916138A>CCA413198507BMP15c.710A>C (p.Asn237Thr)
Xg.50916138A>GCA10416588BMP15c.710A>G (p.Asn237Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50916138A>TCA413198508BMP15c.710A>T (p.Asn237Ile)
Xg.50916139T>ACA413198509BMP15c.711T>A (p.Asn237Lys)
Xg.50916139T>CCA516681150BMP15c.711T>C (p.Asn237=)
gnomAD v4
Xg.50916139T>GCA413198510BMP15c.711T>G (p.Asn237Lys)
dbSNP
Xg.50916139T=CA2429025855BMP15c.711T= (p.Asn237=)
Xg.50916140G>ACA413198513BMP15c.712G>A (p.Asp238Asn)
gnomAD v4
Xg.50916140G>CCA413198511BMP15c.712G>C (p.Asp238His)
Xg.50916140G>TCA413198512BMP15c.712G>T (p.Asp238Tyr)
gnomAD v4
Xg.50916141A>CCA413198514BMP15c.713A>C (p.Asp238Ala)
Xg.50916141A>GCA413198515BMP15c.713A>G (p.Asp238Gly)
Xg.50916141A>TCA413198516BMP15c.713A>T (p.Asp238Val)
Xg.50916142T>ACA413198517BMP15c.714T>A (p.Asp238Glu)
Xg.50916142T>CCA516681157BMP15c.714T>C (p.Asp238=)
dbSNP
Xg.50916142T>GCA413198518BMP15c.714T>G (p.Asp238Glu)
Xg.50916142T=CA2429025856BMP15c.714T= (p.Asp238=)
Xg.50916143A>CCA413198519BMP15c.715A>C (p.Thr239Pro)
Xg.50916143A>GCA413198520BMP15c.715A>G (p.Thr239Ala)
gnomAD v4
Xg.50916143A>TCA413198521BMP15c.715A>T (p.Thr239Ser)
Xg.50916144C>ACA413198522BMP15c.716C>A (p.Thr239Asn)
Xg.50916144C=CA2429025857BMP15c.716C= (p.Thr239=)
Xg.50916144C>GCA413198523BMP15c.716C>G (p.Thr239Ser)
Xg.50916144C>TCA413198524BMP15c.716C>T (p.Thr239Ile)
dbSNP gnomAD v2 gnomAD v4
Xg.50916145T>ACA516681166BMP15c.717T>A (p.Thr239=)
Xg.50916145T>CCA516681168BMP15c.717T>C (p.Thr239=)
Xg.50916145T>GCA516681169BMP15c.717T>G (p.Thr239=)
gnomAD v4
Xg.50916146C>ACA413198527BMP15c.718C>A (p.His240Asn)
Xg.50916146C>GCA413198526BMP15c.718C>G (p.His240Asp)
Xg.50916146C>TCA413198525BMP15c.718C>T (p.His240Tyr)
Xg.50916147A>CCA413198528BMP15c.719A>C (p.His240Pro)
Xg.50916147A>GCA413198529BMP15c.719A>G (p.His240Arg)
Xg.50916147A>TCA413198530BMP15c.719A>T (p.His240Leu)
gnomAD v4
Xg.50916148_50916149delCA2693751511BMP15c.720_721del (p.His240GlnfsTer7)
gnomAD v4
Xg.50916147_50916152delCA2544176297BMP15c.719_724del (p.His240_Ser242delinsArg)
Xg.50916148T>ACA413198531BMP15c.720T>A (p.His240Gln)
Xg.50916148T>CCA516681177BMP15c.720T>C (p.His240=)
Xg.50916148T>GCA413198532BMP15c.720T>G (p.His240Gln)
dbSNP gnomAD v2 gnomAD v4
Xg.50916148T=CA2429025858BMP15c.720T= (p.His240=)
Xg.50916149A>CCA413198533BMP15c.721A>C (p.Lys241Gln)
Xg.50916149A>GCA413198534BMP15c.721A>G (p.Lys241Glu)
gnomAD v4
Xg.50916149A>TCA413198535BMP15c.721A>T (p.Lys241Ter)
Xg.50916150A>CCA413198536BMP15c.722A>C (p.Lys241Thr)
Xg.50916150A>GCA413198537BMP15c.722A>G (p.Lys241Arg)
Xg.50916150A>TCA413198538BMP15c.722A>T (p.Lys241Ile)
Xg.50916151A>CCA413198539BMP15c.723A>C (p.Lys241Asn)
Xg.50916151A>GCA516681190BMP15c.723A>G (p.Lys241=)
Xg.50916151A>TCA413198540BMP15c.723A>T (p.Lys241Asn)
Xg.50916152A=CA2429025859BMP15c.724A= (p.Ser242=)
Xg.50916152A>CCA413198543BMP15c.724A>C (p.Ser242Arg)
Xg.50916152A>GCA413198541BMP15c.724A>G (p.Ser242Gly)
dbSNP gnomAD v4
Xg.50916152A>TCA413198542BMP15c.724A>T (p.Ser242Cys)
Xg.50916153G>ACA413198544BMP15c.725G>A (p.Ser242Asn)
dbSNP COSMIC
Xg.50916153G>CCA413198545BMP15c.725G>C (p.Ser242Thr)
COSMIC
Xg.50916153G=CA2429025860BMP15c.725G= (p.Ser242=)
Xg.50916153G>TCA413198546BMP15c.725G>T (p.Ser242Ile)
Xg.50916154C>ACA413198547BMP15c.726C>A (p.Ser242Arg)
Xg.50916154C=CA2429025861BMP15c.726C= (p.Ser242=)
Xg.50916154C>GCA413198548BMP15c.726C>G (p.Ser242Arg)
gnomAD v4
Xg.50916154C>TCA10416589BMP15c.726C>T (p.Ser242=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50916155A=CA2429025862BMP15c.727A= (p.Ile243=)
Xg.50916155A>CCA413198549BMP15c.727A>C (p.Ile243Leu)
Xg.50916155A>GCA10416590BMP15c.727A>G (p.Ile243Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50916155A>TCA413198550BMP15c.727A>T (p.Ile243Phe)
Xg.50916155_50916156insGTGCA2523332367BMP15c.727_728insGTG (p.Ile243delinsSerVal)
Xg.50916156T>ACA413198551BMP15c.728T>A (p.Ile243Asn)
Xg.50916156T>CCA413198552BMP15c.728T>C (p.Ile243Thr)
Xg.50916156T>GCA10416591BMP15c.728T>G (p.Ile243Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50916156T=CA2429025863BMP15c.728T= (p.Ile243=)
Xg.50916157T>ACA516681208BMP15c.729T>A (p.Ile243=)
Xg.50916157T>CCA516681206BMP15c.729T>C (p.Ile243=)
Xg.50916157T>GCA413198553BMP15c.729T>G (p.Ile243Met)
Xg.50916158C>ACA516681210BMP15c.730C>A (p.Arg244=)
Xg.50916158C=CA2429025864BMP15c.730C= (p.Arg244=)
Xg.50916158C>GCA413198554BMP15c.730C>G (p.Arg244Gly)
Xg.50916158C>TCA10416592BMP15c.730C>T (p.Arg244Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.50916159G>ACA10416593BMP15c.731G>A (p.Arg244Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.50916159G>CCA413198556BMP15c.731G>C (p.Arg244Pro)
Xg.50916159G=CA2429025865BMP15c.731G= (p.Arg244=)
Xg.50916159G>TCA413198555BMP15c.731G>T (p.Arg244Leu)
Xg.50916160G>ACA516681217BMP15c.732G>A (p.Arg244=)
Xg.50916160G>CCA516681219BMP15c.732G>C (p.Arg244=)
Xg.50916160G>TCA516681218BMP15c.732G>T (p.Arg244=)
Xg.50916161A>CCA413198557BMP15c.733A>C (p.Lys245Gln)
Xg.50916161A>GCA413198558BMP15c.733A>G (p.Lys245Glu)
Xg.50916161A>TCA413198559BMP15c.733A>T (p.Lys245Ter)
Xg.50916162A>CCA413198560BMP15c.734A>C (p.Lys245Thr)
Xg.50916162A>GCA413198561BMP15c.734A>G (p.Lys245Arg)
Xg.50916162A>TCA413198562BMP15c.734A>T (p.Lys245Met)
Xg.50916163G>ACA10416594BMP15c.735G>A (p.Lys245=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50916163G>CCA413198563BMP15c.735G>C (p.Lys245Asn)
Xg.50916163G=CA2429025866BMP15c.735G= (p.Lys245=)
Xg.50916163G>TCA413198564BMP15c.735G>T (p.Lys245Asn)
Xg.50916164G>ACA413198565BMP15c.736G>A (p.Ala246Thr)
Xg.50916164G>CCA413198566BMP15c.736G>C (p.Ala246Pro)
Xg.50916164G>TCA413198567BMP15c.736G>T (p.Ala246Ser)
Xg.50916165C>ACA413198570BMP15c.737C>A (p.Ala246Asp)
Xg.50916165C>GCA413198568BMP15c.737C>G (p.Ala246Gly)
Xg.50916165C>TCA413198569BMP15c.737C>T (p.Ala246Val)
Xg.50916166T>ACA516681233BMP15c.738T>A (p.Ala246=)
Xg.50916166T>CCA516681235BMP15c.738T>C (p.Ala246=)
Xg.50916166T>GCA516681239BMP15c.738T>G (p.Ala246=)
gnomAD v4
Xg.50916167A>CCA413198571BMP15c.739A>C (p.Lys247Gln)
Xg.50916167A>GCA413198572BMP15c.739A>G (p.Lys247Glu)
Xg.50916167A>TCA413198573BMP15c.739A>T (p.Lys247Ter)
Xg.50916168A>CCA413198574BMP15c.740A>C (p.Lys247Thr)
Xg.50916168A>GCA413198575BMP15c.740A>G (p.Lys247Arg)
Xg.50916168A>TCA413198576BMP15c.740A>T (p.Lys247Ile)
Xg.50916169A=CA2429025867BMP15c.741A= (p.Lys247=)
Xg.50916169A>CCA413198577BMP15c.741A>C (p.Lys247Asn)
Xg.50916169A>GCA516681244BMP15c.741A>G (p.Lys247=)
dbSNP
Xg.50916169A>TCA413198578BMP15c.741A>T (p.Lys247Asn)
Xg.50916170T>ACA413198579BMP15c.742T>A (p.Phe248Ile)
Xg.50916170T>CCA413198580BMP15c.742T>C (p.Phe248Leu)
dbSNP gnomAD v3 gnomAD v4
Xg.50916170T>GCA413198581BMP15c.742T>G (p.Phe248Val)
Xg.50916170T=CA2429025868BMP15c.742T= (p.Phe248=)
Xg.50916172delCA2502924578BMP15c.744del (p.Leu249PhefsTer?)
Xg.50916171T>ACA413198584BMP15c.743T>A (p.Phe248Tyr)
Xg.50916171T>CCA413198583BMP15c.743T>C (p.Phe248Ser)
Xg.50916171T>GCA413198582BMP15c.743T>G (p.Phe248Cys)
Xg.50916172T>ACA413198586BMP15c.744T>A (p.Phe248Leu)
Xg.50916172T>CCA516681251BMP15c.744T>C (p.Phe248=)
Xg.50916172T>GCA413198585BMP15c.744T>G (p.Phe248Leu)
Xg.50916173C>ACA413198587BMP15c.745C>A (p.Leu249Ile)
Xg.50916173C>GCA413198588BMP15c.745C>G (p.Leu249Val)
Xg.50916173C>TCA413198589BMP15c.745C>T (p.Leu249Phe)
COSMIC
Xg.50916174T>ACA413198590BMP15c.746T>A (p.Leu249His)
Xg.50916174T>CCA413198591BMP15c.746T>C (p.Leu249Pro)
Xg.50916174T>GCA413198592BMP15c.746T>G (p.Leu249Arg)
Xg.50916175T>ACA516681393BMP15c.747T>A (p.Leu249=)
Xg.50916175T>CCA516681394BMP15c.747T>C (p.Leu249=)
Xg.50916175T>GCA516681395BMP15c.747T>G (p.Leu249=)
Xg.50916176C>ACA413198593BMP15c.748C>A (p.Pro250Thr)
Xg.50916176C>GCA413198594BMP15c.748C>G (p.Pro250Ala)
Xg.50916176C>TCA413198595BMP15c.748C>T (p.Pro250Ser)
Xg.50916176_50916177delinsTTCA645613579BMP15c.748_749delinsTT (p.Pro250Phe)
COSMIC
Xg.50916177C>ACA413198596BMP15c.749C>A (p.Pro250His)
gnomAD v4 COSMIC
Xg.50916177C>GCA413198597BMP15c.749C>G (p.Pro250Arg)
Xg.50916177C>TCA413198598BMP15c.749C>T (p.Pro250Leu)
COSMIC

Number of alleles fetched