Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31089133T>CCA988889863DSC2c.201+306A>G (n.201+306A>G)
c.630+306A>G (n.630+306A>G)
gnomAD v3 gnomAD v4
18g.31089134C>ACA988889864DSC2c.201+305G>T (n.201+305G>T)
c.630+305G>T (n.630+305G>T)
gnomAD v3 gnomAD v4
18g.31089139T>GCA988889865DSC2c.201+300A>C (n.201+300A>C)
c.630+300A>C (n.630+300A>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089139T=CA2293654750DSC2c.201+300A= (n.201+300A=)
c.630+300A= (n.630+300A=)
18g.31089142G>ACA2293654752DSC2c.201+297C>T (n.201+297C>T)
c.630+297C>T (n.630+297C>T)
dbSNP
18g.31089142G=CA2293654751DSC2c.201+297C= (n.201+297C=)
c.630+297C= (n.630+297C=)
18g.31089143T>CCA988889866DSC2c.201+296A>G (n.201+296A>G)
c.630+296A>G (n.630+296A>G)
gnomAD v3 gnomAD v4
18g.31089143T>GCA988889867DSC2c.201+296A>C (n.201+296A>C)
c.630+296A>C (n.630+296A>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089144G>ACA778399123DSC2c.201+295C>T (n.201+295C>T)
c.630+295C>T (n.630+295C>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089144G=CA2293654753DSC2c.201+295C= (n.201+295C=)
c.630+295C= (n.630+295C=)
18g.31089145G>ACA988889868DSC2c.201+294C>T (n.201+294C>T)
c.630+294C>T (n.630+294C>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089145G=CA2293654754DSC2c.201+294C= (n.201+294C=)
c.630+294C= (n.630+294C=)
18g.31089145G>TCA297641490DSC2c.201+294C>A (n.201+294C>A)
c.630+294C>A (n.630+294C>A)
dbSNP gnomAD v3 gnomAD v4
18g.31089146C>ACA778399130DSC2c.201+293G>T (n.201+293G>T)
c.630+293G>T (n.630+293G>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089146C=CA2293654755DSC2c.201+293G= (n.201+293G=)
c.630+293G= (n.630+293G=)
18g.31089148A>CCA2811993233DSC2c.201+291T>G (n.201+291T>G)
c.630+291T>G (n.630+291T>G)
18g.31089148A>GCA988889869DSC2c.201+291T>C (n.201+291T>C)
c.630+291T>C (n.630+291T>C)
gnomAD v3 gnomAD v4
18g.31089148A>TCA2811993234DSC2c.201+291T>A (n.201+291T>A)
c.630+291T>A (n.630+291T>A)
18g.31089149A>CCA2811993235DSC2c.201+290T>G (n.201+290T>G)
c.630+290T>G (n.630+290T>G)
18g.31089150G>TCA2591641487DSC2c.201+289C>A (n.201+289C>A)
c.630+289C>A (n.630+289C>A)
dbSNP gnomAD v3 gnomAD v4
18g.31089151T>ACA2293654757DSC2c.201+288A>T (n.201+288A>T)
c.630+288A>T (n.630+288A>T)
dbSNP
18g.31089151T>CCA2811993236DSC2c.201+288A>G (n.201+288A>G)
c.630+288A>G (n.630+288A>G)
18g.31089151T>GCA988889871DSC2c.201+288A>C (n.201+288A>C)
c.630+288A>C (n.630+288A>C)
gnomAD v3 gnomAD v4
18g.31089151T=CA2293654756DSC2c.201+288A= (n.201+288A=)
c.630+288A= (n.630+288A=)
18g.31089152G>ACA988889872DSC2c.201+287C>T (n.201+287C>T)
c.630+287C>T (n.630+287C>T)
gnomAD v3 gnomAD v4
18g.31089152G>TCA988889873DSC2c.201+287C>A (n.201+287C>A)
c.630+287C>A (n.630+287C>A)
gnomAD v3 gnomAD v4
18g.31089153A>TCA988889874DSC2c.201+286T>A (n.201+286T>A)
c.630+286T>A (n.630+286T>A)
gnomAD v3 gnomAD v4
18g.31089154G>ACA988889875DSC2c.201+285C>T (n.201+285C>T)
c.630+285C>T (n.630+285C>T)
gnomAD v3 gnomAD v4
18g.31089154G>TCA988889876DSC2c.201+285C>A (n.201+285C>A)
c.630+285C>A (n.630+285C>A)
dbSNP gnomAD v3 gnomAD v4
18g.31089155A>TCA988889877DSC2c.201+284T>A (n.201+284T>A)
c.630+284T>A (n.630+284T>A)
dbSNP gnomAD v3 gnomAD v4
18g.31089156T>CCA988889880DSC2c.201+283A>G (n.201+283A>G)
c.630+283A>G (n.630+283A>G)
gnomAD v3 gnomAD v4
18g.31089156T>GCA988889879DSC2c.201+283A>C (n.201+283A>C)
c.630+283A>C (n.630+283A>C)
gnomAD v3 gnomAD v4
18g.31089156_31089157delCA988889878DSC2c.201+282_201+283del (n.201+282_201+283del)
c.630+282_630+283del (n.630+282_630+283del)
gnomAD v3 gnomAD v4
18g.31089157G>CCA297641496DSC2c.201+282C>G (n.201+282C>G)
c.630+282C>G (n.630+282C>G)
dbSNP
18g.31089157G=CA2293654758DSC2c.201+282C= (n.201+282C=)
c.630+282C= (n.630+282C=)
18g.31089157G>TCA988889881DSC2c.201+282C>A (n.201+282C>A)
c.630+282C>A (n.630+282C>A)
gnomAD v3 gnomAD v4
18g.31089158C>ACA988889882DSC2c.201+281G>T (n.201+281G>T)
c.630+281G>T (n.630+281G>T)
gnomAD v3 gnomAD v4
18g.31089158C=CA2293654759DSC2c.201+281G= (n.201+281G=)
c.630+281G= (n.630+281G=)
18g.31089158C>GCA778399139DSC2c.201+281G>C (n.201+281G>C)
c.630+281G>C (n.630+281G>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089158C>TCA988889883DSC2c.201+281G>A (n.201+281G>A)
c.630+281G>A (n.630+281G>A)
gnomAD v3 gnomAD v4
18g.31089159T>GCA2529916629DSC2c.201+280A>C (n.201+280A>C)
c.630+280A>C (n.630+280A>C)
18g.31089159_31089160insCCCA2591641493DSC2c.201+279_201+280insGG (n.201+279_201+280insGG)
c.630+279_630+280insGG (n.630+279_630+280insGG)
gnomAD v3 gnomAD v4
18g.31089160G>ACA629136603DSC2c.201+279C>T (n.201+279C>T)
c.630+279C>T (n.630+279C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089160G=CA2293654760DSC2c.201+279C= (n.201+279C=)
c.630+279C= (n.630+279C=)
18g.31089160G>TCA988889885DSC2c.201+279C>A (n.201+279C>A)
c.630+279C>A (n.630+279C>A)
gnomAD v3 gnomAD v4
18g.31089161T>CCA778399146DSC2c.201+278A>G (n.201+278A>G)
c.630+278A>G (n.630+278A>G)
dbSNP gnomAD v3 gnomAD v4
18g.31089161T=CA2293654761DSC2c.201+278A= (n.201+278A=)
c.630+278A= (n.630+278A=)
18g.31089163_31089164delCA988889887DSC2c.201+277_201+278del (n.201+277_201+278del)
c.630+277_630+278del (n.630+277_630+278del)
gnomAD v3 gnomAD v4
18g.31089162C>ACA629136604DSC2c.201+277G>T (n.201+277G>T)
c.630+277G>T (n.630+277G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089162C=CA2293654762DSC2c.201+277G= (n.201+277G=)
c.630+277G= (n.630+277G=)
18g.31089162C>TCA988889889DSC2c.201+277G>A (n.201+277G>A)
c.630+277G>A (n.630+277G>A)
gnomAD v3 gnomAD v4
18g.31089162_31089163delinsCTCA2293654763DSC2c.201+276_201+277delinsAG (n.201+276_201+277delinsAG)
c.630+276_630+277delinsAG (n.630+276_630+277delinsAG)
18g.31089162_31089164delCA988889888DSC2c.201+275_201+277del (n.201+275_201+277del)
c.630+275_630+277del (n.630+275_630+277del)
gnomAD v3 gnomAD v4
18g.31089162_31089163insAACA2293654766DSC2c.201+276_201+277insTT (n.201+276_201+277insTT)
c.630+276_630+277insTT (n.630+276_630+277insTT)
dbSNP
18g.31089163delCA629136605DSC2c.201+276del (n.201+276del)
c.630+276del (n.630+276del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089163T>ACA629136606DSC2c.201+276A>T (n.201+276A>T)
c.630+276A>T (n.630+276A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089163T>CCA988889892DSC2c.201+276A>G (n.201+276A>G)
c.630+276A>G (n.630+276A>G)
dbSNP gnomAD v3 gnomAD v4
18g.31089163T=CA2293654765DSC2c.201+276A= (n.201+276A=)
c.630+276A= (n.630+276A=)
18g.31089163_31089164delinsTCCA2293654764DSC2c.201+275_201+276delinsGA (n.201+275_201+276delinsGA)
c.630+275_630+276delinsGA (n.630+275_630+276delinsGA)
18g.31089163_31089164insACA629136607DSC2c.201+275_201+276insT (n.201+275_201+276insT)
c.630+275_630+276insT (n.630+275_630+276insT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089163_31089164insAACA629136608DSC2c.201+275_201+276insTT (n.201+275_201+276insTT)
c.630+275_630+276insTT (n.630+275_630+276insTT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089163_31089164insAAACA629136609DSC2c.201+275_201+276insTTT (n.201+275_201+276insTTT)
c.630+275_630+276insTTT (n.630+275_630+276insTTT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089163_31089164insAAAACA988889895DSC2c.201+275_201+276insTTTT (n.201+275_201+276insTTTT)
c.630+275_630+276insTTTT (n.630+275_630+276insTTTT)
gnomAD v3 gnomAD v4
18g.31089163_31089164insAAAAACA2557900577DSC2c.201+275_201+276insTTTTT (n.201+275_201+276insTTTTT)
c.630+275_630+276insTTTTT (n.630+275_630+276insTTTTT)
18g.31089164delCA2293654769DSC2c.201+275del (n.201+275del)
c.630+275del (n.630+275del)
dbSNP
18g.31089164C>ACA297641503DSC2c.201+275G>T (n.201+275G>T)
c.630+275G>T (n.630+275G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089164C=CA2293654768DSC2c.201+275G= (n.201+275G=)
c.630+275G= (n.630+275G=)
18g.31089164_31089165dupCA503389490DSC2c.201+274_201+275dup (n.201+274_201+275dup)
c.630+274_630+275dup (n.630+274_630+275dup)
18g.31089164_31089169delinsCAAAAACA2293654767DSC2c.201+270_201+275delinsTTTTTG (n.201+270_201+275delinsTTTTTG)
c.630+270_630+275delinsTTTTTG (n.630+270_630+275delinsTTTTTG)
18g.31089164_31089165insGACA2293654771DSC2c.201+274_201+275insTC (n.201+274_201+275insTC)
c.630+274_630+275insTC (n.630+274_630+275insTC)
dbSNP
18g.31089165A=CA2293654770DSC2c.201+274T= (n.201+274T=)
c.630+274T= (n.630+274T=)
18g.31089165A>GCA2501992887DSC2c.201+274T>C (n.201+274T>C)
c.630+274T>C (n.630+274T>C)
18g.31089183_31089184insAAAAAAAAAAAAAAAAAAAAAAAAAACA2741576152DSC2c.201+274_201+275insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.201+274_201+275insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.630+274_630+275insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.630+274_630+275insTTTTTTTTTTTTTTTTTTTTTTTTTT)
18g.31089183dupCA297641514DSC2c.201+274dup (n.201+274dup)
c.630+274dup (n.630+274dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089182_31089183dupCA297641512DSC2c.201+273_201+274dup (n.201+273_201+274dup)
c.630+273_630+274dup (n.630+273_630+274dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089181_31089183dupCA297641517DSC2c.201+272_201+274dup (n.201+272_201+274dup)
c.630+272_630+274dup (n.630+272_630+274dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089180_31089183dupCA629136611DSC2c.201+271_201+274dup (n.201+271_201+274dup)
c.630+271_630+274dup (n.630+271_630+274dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089179_31089183dupCA988889919DSC2c.201+270_201+274dup (n.201+270_201+274dup)
c.630+270_630+274dup (n.630+270_630+274dup)
dbSNP gnomAD v3 gnomAD v4
18g.31089178_31089183dupCA988889913DSC2c.201+269_201+274dup (n.201+269_201+274dup)
c.630+269_630+274dup (n.630+269_630+274dup)
dbSNP gnomAD v3 gnomAD v4
18g.31089177_31089183dupCA988889910DSC2c.201+268_201+274dup (n.201+268_201+274dup)
c.630+268_630+274dup (n.630+268_630+274dup)
gnomAD v3 gnomAD v4
18g.31089176_31089183dupCA919958096DSC2c.201+267_201+274dup (n.201+267_201+274dup)
c.630+267_630+274dup (n.630+267_630+274dup)
dbSNP
18g.31089175_31089183dupCA2741576151DSC2c.201+266_201+274dup (n.201+266_201+274dup)
c.630+266_630+274dup (n.630+266_630+274dup)
18g.31089174_31089183dupCA988889908DSC2c.201+265_201+274dup (n.201+265_201+274dup)
c.630+265_630+274dup (n.630+265_630+274dup)
dbSNP
18g.31089183delCA629136610DSC2c.201+274del (n.201+274del)
c.630+274del (n.630+274del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089182_31089183delCA778399206DSC2c.201+273_201+274del (n.201+273_201+274del)
c.630+273_630+274del (n.630+273_630+274del)
dbSNP gnomAD v3 gnomAD v4
18g.31089181_31089183delCA778399185DSC2c.201+272_201+274del (n.201+272_201+274del)
c.630+272_630+274del (n.630+272_630+274del)
dbSNP gnomAD v3 gnomAD v4
18g.31089180_31089183delCA988889907DSC2c.201+271_201+274del (n.201+271_201+274del)
c.630+271_630+274del (n.630+271_630+274del)
gnomAD v3 gnomAD v4
18g.31089179_31089183delCA988889905DSC2c.201+270_201+274del (n.201+270_201+274del)
c.630+270_630+274del (n.630+270_630+274del)
dbSNP gnomAD v3 gnomAD v4
18g.31089165_31089166insGCA629136612DSC2c.201+273_201+274insC (n.201+273_201+274insC)
c.630+273_630+274insC (n.630+273_630+274insC)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089166A=CA2293654772DSC2c.201+273T= (n.201+273T=)
c.630+273T= (n.630+273T=)
18g.31089166A>GCA2293654773DSC2c.201+273T>C (n.201+273T>C)
c.630+273T>C (n.630+273T>C)
dbSNP
18g.31089167A=CA2293654774DSC2c.201+272T= (n.201+272T=)
c.630+272T= (n.630+272T=)
18g.31089167A>CCA297641521DSC2c.201+272T>G (n.201+272T>G)
c.630+272T>G (n.630+272T>G)
dbSNP
18g.31089169_31089170insGACA629136613DSC2c.201+270_201+271insCT (n.201+270_201+271insCT)
c.630+270_630+271insCT (n.630+270_630+271insCT)
gnomAD v2
18g.31089171_31089172insGTAACA2811993237DSC2c.201+269_201+270insACTT (n.201+269_201+270insACTT)
c.630+269_630+270insACTT (n.630+269_630+270insACTT)
18g.31089173A=CA2293654775DSC2c.201+266T= (n.201+266T=)
c.630+266T= (n.630+266T=)
18g.31089174A=CA2293654776DSC2c.201+265T= (n.201+265T=)
c.630+265T= (n.630+265T=)
18g.31089174A>GCA988889934DSC2c.201+265T>C (n.201+265T>C)
c.630+265T>C (n.630+265T>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089174_31089175insCACA297641533DSC2c.201+265_201+266insGT (n.201+265_201+266insGT)
c.630+265_630+266insGT (n.630+265_630+266insGT)
dbSNP gnomAD v3 gnomAD v4
18g.31089174_31089175insCCA629136614DSC2c.201+264_201+265insG (n.201+264_201+265insG)
c.630+264_630+265insG (n.630+264_630+265insG)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089175A=CA2293654777DSC2c.201+264T= (n.201+264T=)
c.630+264T= (n.630+264T=)
18g.31089175A>CCA2293654778DSC2c.201+264T>G (n.201+264T>G)
c.630+264T>G (n.630+264T>G)
dbSNP
18g.31089175A>TCA297641540DSC2c.201+264T>A (n.201+264T>A)
c.630+264T>A (n.630+264T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089175_31089176insCACA778399225DSC2c.201+264_201+265insGT (n.201+264_201+265insGT)
c.630+264_630+265insGT (n.630+264_630+265insGT)
dbSNP gnomAD v3 gnomAD v4
18g.31089176A=CA2293654779DSC2c.201+263T= (n.201+263T=)
c.630+263T= (n.630+263T=)
18g.31089176A>CCA2293654780DSC2c.201+263T>G (n.201+263T>G)
c.630+263T>G (n.630+263T>G)
dbSNP
18g.31089176_31089177insCCA2293654782DSC2c.201+262_201+263insG (n.201+262_201+263insG)
c.630+262_630+263insG (n.630+262_630+263insG)
dbSNP
18g.31089177A=CA2293654781DSC2c.201+262T= (n.201+262T=)
c.630+262T= (n.630+262T=)
18g.31089177_31089178insCACA778399233DSC2c.201+262_201+263insGT (n.201+262_201+263insGT)
c.630+262_630+263insGT (n.630+262_630+263insGT)
dbSNP
18g.31089178A=CA2293654783DSC2c.201+261T= (n.201+261T=)
c.630+261T= (n.630+261T=)
18g.31089178A>CCA778399243DSC2c.201+261T>G (n.201+261T>G)
c.630+261T>G (n.630+261T>G)
dbSNP gnomAD v3 gnomAD v4
18g.31089178_31089179insCACA629136615DSC2c.201+261_201+262insGT (n.201+261_201+262insGT)
c.630+261_630+262insGT (n.630+261_630+262insGT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089179A=CA2293654784DSC2c.201+260T= (n.201+260T=)
c.630+260T= (n.630+260T=)
18g.31089179_31089180insCCA778399249DSC2c.201+259_201+260insG (n.201+259_201+260insG)
c.630+259_630+260insG (n.630+259_630+260insG)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089180A=CA2293654785DSC2c.201+259T= (n.201+259T=)
c.630+259T= (n.630+259T=)
18g.31089180_31089181insCACA988889937DSC2c.201+259_201+260insGT (n.201+259_201+260insGT)
c.630+259_630+260insGT (n.630+259_630+260insGT)
dbSNP gnomAD v3 gnomAD v4
18g.31089181A=CA2293654787DSC2c.201+258T= (n.201+258T=)
c.630+258T= (n.630+258T=)
18g.31089181A>CCA629136616DSC2c.201+258T>G (n.201+258T>G)
c.630+258T>G (n.630+258T>G)
dbSNP gnomAD v2
18g.31089182_31089183insTAACA2293654786DSC2c.201+258_201+259insATT (n.201+258_201+259insATT)
c.630+258_630+259insATT (n.630+258_630+259insATT)
dbSNP
18g.31089182A=CA2293654788DSC2c.201+257T= (n.201+257T=)
c.630+257T= (n.630+257T=)
18g.31089182A>CCA2293654789DSC2c.201+257T>G (n.201+257T>G)
c.630+257T>G (n.630+257T>G)
dbSNP
18g.31089183A=CA2293654791DSC2c.201+256T= (n.201+256T=)
c.630+256T= (n.630+256T=)
18g.31089183A>CCA297641546DSC2c.201+256T>G (n.201+256T>G)
c.630+256T>G (n.630+256T>G)
dbSNP
18g.31089183A>GCA778399259DSC2c.201+256T>C (n.201+256T>C)
c.630+256T>C (n.630+256T>C)
dbSNP
18g.31089183_31089184insACTGTACA2811993238DSC2c.201+256_201+257insACAGTT (n.201+256_201+257insACAGTT)
c.630+256_630+257insACAGTT (n.630+256_630+257insACAGTT)
18g.31089183_31089184dupCA778399255DSC2c.201+255_201+256dup (n.201+255_201+256dup)
c.630+255_630+256dup (n.630+255_630+256dup)
dbSNP
18g.31089183_31089191delinsACTGTTCTTCA2293654790DSC2c.201+248_201+256delinsAAGAACAGT (n.201+248_201+256delinsAAGAACAGT)
c.630+248_630+256delinsAAGAACAGT (n.630+248_630+256delinsAAGAACAGT)
18g.31089183_31089184insACCA629136618DSC2c.201+255_201+256insGT (n.201+255_201+256insGT)
c.630+255_630+256insGT (n.630+255_630+256insGT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089183_31089184insAGCA2556835699DSC2c.201+255_201+256insCT (n.201+255_201+256insCT)
c.630+255_630+256insCT (n.630+255_630+256insCT)
18g.31089183_31089184insAAACCA988889939DSC2c.201+255_201+256insGTTT (n.201+255_201+256insGTTT)
c.630+255_630+256insGTTT (n.630+255_630+256insGTTT)
dbSNP gnomAD v3 gnomAD v4
18g.31089184C>ACA629136619DSC2c.201+255G>T (n.201+255G>T)
c.630+255G>T (n.630+255G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089184C=CA2293654792DSC2c.201+255G= (n.201+255G=)
c.630+255G= (n.630+255G=)
18g.31089184_31089185delCA988889940DSC2c.201+254_201+255del (n.201+254_201+255del)
c.630+254_630+255del (n.630+254_630+255del)
gnomAD v3 gnomAD v4
18g.31089184_31089192delCA988889938DSC2c.201+247_201+255del (n.201+247_201+255del)
c.630+247_630+255del (n.630+247_630+255del)
gnomAD v3 gnomAD v4
18g.31089185_31089192delCA629136617DSC2c.201+248_201+255del (n.201+248_201+255del)
c.630+248_630+255del (n.630+248_630+255del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089185T>ACA629136620DSC2c.201+254A>T (n.201+254A>T)
c.630+254A>T (n.630+254A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089185T=CA2293654793DSC2c.201+254A= (n.201+254A=)
c.630+254A= (n.630+254A=)
18g.31089185_31089186insAAAACA988889941DSC2c.201+253_201+254insTTTT (n.201+253_201+254insTTTT)
c.630+253_630+254insTTTT (n.630+253_630+254insTTTT)
gnomAD v3 gnomAD v4
18g.31089186G>ACA988889942DSC2c.201+253C>T (n.201+253C>T)
c.630+253C>T (n.630+253C>T)
gnomAD v3 gnomAD v4
18g.31089186G>TCA988889943DSC2c.201+253C>A (n.201+253C>A)
c.630+253C>A (n.630+253C>A)
gnomAD v3 gnomAD v4
18g.31089187T>ACA988889944DSC2c.201+252A>T (n.201+252A>T)
c.630+252A>T (n.630+252A>T)
gnomAD v3 gnomAD v4
18g.31089187T>GCA988889945DSC2c.201+252A>C (n.201+252A>C)
c.630+252A>C (n.630+252A>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089187T=CA2293654794DSC2c.201+252A= (n.201+252A=)
c.630+252A= (n.630+252A=)
18g.31089187_31089199delinsTTCTTCAAAGTGGCA2293654795DSC2c.201+240_201+252delinsCCACTTTGAAGAA (n.201+240_201+252delinsCCACTTTGAAGAA)
c.630+240_630+252delinsCCACTTTGAAGAA (n.630+240_630+252delinsCCACTTTGAAGAA)
18g.31089189_31089200delCA629136621DSC2c.201+240_201+251del (n.201+240_201+251del)
c.630+240_630+251del (n.630+240_630+251del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089189C>ACA988889946DSC2c.201+250G>T (n.201+250G>T)
c.630+250G>T (n.630+250G>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089189C=CA2293654796DSC2c.201+250G= (n.201+250G=)
c.630+250G= (n.630+250G=)
18g.31089189C>TCA988889947DSC2c.201+250G>A (n.201+250G>A)
c.630+250G>A (n.630+250G>A)
gnomAD v3 gnomAD v4
18g.31089192C>ACA629136622DSC2c.201+247G>T (n.201+247G>T)
c.630+247G>T (n.630+247G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089192C=CA2293654797DSC2c.201+247G= (n.201+247G=)
c.630+247G= (n.630+247G=)
18g.31089192C>TCA988889948DSC2c.201+247G>A (n.201+247G>A)
c.630+247G>A (n.630+247G>A)
gnomAD v3 gnomAD v4
18g.31089193A=CA2293654798DSC2c.201+246T= (n.201+246T=)
c.630+246T= (n.630+246T=)
18g.31089193A>GCA2293654799DSC2c.201+246T>C (n.201+246T>C)
c.630+246T>C (n.630+246T>C)
dbSNP
18g.31089195A=CA2293654800DSC2c.201+244T= (n.201+244T=)
c.630+244T= (n.630+244T=)
18g.31089195A>GCA629136623DSC2c.201+244T>C (n.201+244T>C)
c.630+244T>C (n.630+244T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089196delCA988889949DSC2c.201+243del (n.201+243del)
c.630+243del (n.630+243del)
gnomAD v3 gnomAD v4
18g.31089196G>CCA988889950DSC2c.201+243C>G (n.201+243C>G)
c.630+243C>G (n.630+243C>G)
dbSNP gnomAD v3 gnomAD v4
18g.31089196G=CA2293654801DSC2c.201+243C= (n.201+243C=)
c.630+243C= (n.630+243C=)
18g.31089197T>ACA988889951DSC2c.201+242A>T (n.201+242A>T)
c.630+242A>T (n.630+242A>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089197T>GCA297641552DSC2c.201+242A>C (n.201+242A>C)
c.630+242A>C (n.630+242A>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089197T=CA2293654803DSC2c.201+242A= (n.201+242A=)
c.630+242A= (n.630+242A=)
18g.31089197_31089218delinsTGGTACTGTTGTGGGGGAAAAACA2293654802DSC2c.201+221_201+242delinsTTTTTCCCCCACAACAGTACCA (n.201+221_201+242delinsTTTTTCCCCCACAACAGTACCA)
c.630+221_630+242delinsTTTTTCCCCCACAACAGTACCA (n.630+221_630+242delinsTTTTTCCCCCACAACAGTACCA)
18g.31089199delCA2505096325DSC2c.201+241del (n.201+241del)
c.630+241del (n.630+241del)
18g.31089198_31089218delCA988889952DSC2c.201+221_201+241del (n.201+221_201+241del)
c.630+221_630+241del (n.630+221_630+241del)
dbSNP gnomAD v3 gnomAD v4
18g.31089199G>ACA297641557DSC2c.201+240C>T (n.201+240C>T)
c.630+240C>T (n.630+240C>T)
dbSNP
18g.31089199G=CA2293654804DSC2c.201+240C= (n.201+240C=)
c.630+240C= (n.630+240C=)
18g.31089199G>TCA297641564DSC2c.201+240C>A (n.201+240C>A)
c.630+240C>A (n.630+240C>A)
dbSNP gnomAD v3 gnomAD v4
18g.31089200T>ACA988889954DSC2c.201+239A>T (n.201+239A>T)
c.630+239A>T (n.630+239A>T)
gnomAD v3 gnomAD v4
18g.31089200T>GCA988889956DSC2c.201+239A>C (n.201+239A>C)
c.630+239A>C (n.630+239A>C)
gnomAD v3 gnomAD v4
18g.31089201A=CA2293654805DSC2c.201+238T= (n.201+238T=)
c.630+238T= (n.630+238T=)
18g.31089201A>GCA778399269DSC2c.201+238T>C (n.201+238T>C)
c.630+238T>C (n.630+238T>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089202C>ACA988889962DSC2c.201+237G>T (n.201+237G>T)
c.630+237G>T (n.630+237G>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089202C=CA2293654806DSC2c.201+237G= (n.201+237G=)
c.630+237G= (n.630+237G=)
18g.31089202C>TCA629136624DSC2c.201+237G>A (n.201+237G>A)
c.630+237G>A (n.630+237G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089204G>ACA778399279DSC2c.201+235C>T (n.201+235C>T)
c.630+235C>T (n.630+235C>T)
dbSNP
18g.31089204G=CA2293654807DSC2c.201+235C= (n.201+235C=)
c.630+235C= (n.630+235C=)
18g.31089206dupCA988889964DSC2c.201+234dup (n.201+234dup)
c.630+234dup (n.630+234dup)
dbSNP gnomAD v3 gnomAD v4
18g.31089208_31089209delinsTGCA2293654808DSC2c.201+230_201+231delinsCA (n.201+230_201+231delinsCA)
c.630+230_630+231delinsCA (n.630+230_630+231delinsCA)
18g.31089209G>ACA778399281DSC2c.201+230C>T (n.201+230C>T)
c.630+230C>T (n.630+230C>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089209G=CA2293654810DSC2c.201+230C= (n.201+230C=)
c.630+230C= (n.630+230C=)
18g.31089213dupCA2293654809DSC2c.201+230dup (n.201+230dup)
c.630+230dup (n.630+230dup)
dbSNP
18g.31089213delCA297641583DSC2c.201+230del (n.201+230del)
c.630+230del (n.630+230del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089211G>ACA297641593DSC2c.201+228C>T (n.201+228C>T)
c.630+228C>T (n.630+228C>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089211G=CA2293654811DSC2c.201+228C= (n.201+228C=)
c.630+228C= (n.630+228C=)
18g.31089212G>ACA297641600DSC2c.201+227C>T (n.201+227C>T)
c.630+227C>T (n.630+227C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089212G>CCA2539144573DSC2c.201+227C>G (n.201+227C>G)
c.630+227C>G (n.630+227C>G)
18g.31089212G=CA2293654812DSC2c.201+227C= (n.201+227C=)
c.630+227C= (n.630+227C=)
18g.31089213G>ACA988889967DSC2c.201+226C>T (n.201+226C>T)
c.630+226C>T (n.630+226C>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089213G=CA2293654814DSC2c.201+226C= (n.201+226C=)
c.630+226C= (n.630+226C=)
18g.31089213_31089214delinsGACA2293654813DSC2c.201+225_201+226delinsTC (n.201+225_201+226delinsTC)
c.630+225_630+226delinsTC (n.630+225_630+226delinsTC)
18g.31089214A=CA2293654815DSC2c.201+225T= (n.201+225T=)
c.630+225T= (n.630+225T=)
18g.31089214A>GCA297641621DSC2c.201+225T>C (n.201+225T>C)
c.630+225T>C (n.630+225T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089222dupCA297641612DSC2c.201+225dup (n.201+225dup)
c.630+225dup (n.630+225dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089222delCA297641626DSC2c.201+225del (n.201+225del)
c.630+225del (n.630+225del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089215A=CA2293654816DSC2c.201+224T= (n.201+224T=)
c.630+224T= (n.630+224T=)
18g.31089215A>GCA778399288DSC2c.201+224T>C (n.201+224T>C)
c.630+224T>C (n.630+224T>C)
dbSNP gnomAD v3 gnomAD v4
18g.31089218A=CA2293654817DSC2c.201+221T= (n.201+221T=)
c.630+221T= (n.630+221T=)
18g.31089218A>CCA297641643DSC2c.201+221T>G (n.201+221T>G)
c.630+221T>G (n.630+221T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089219A=CA2293654818DSC2c.201+220T= (n.201+220T=)
c.630+220T= (n.630+220T=)
18g.31089219A>GCA297641649DSC2c.201+220T>C (n.201+220T>C)
c.630+220T>C (n.630+220T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089222A=CA2293654819DSC2c.201+217T= (n.201+217T=)
c.630+217T= (n.630+217T=)
18g.31089222A>TCA778399289DSC2c.201+217T>A (n.201+217T>A)
c.630+217T>A (n.630+217T>A)
dbSNP gnomAD v3 gnomAD v4
18g.31089223T>ACA629136625DSC2c.201+216A>T (n.201+216A>T)
c.630+216A>T (n.630+216A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089223T>CCA297641654DSC2c.201+216A>G (n.201+216A>G)
c.630+216A>G (n.630+216A>G)
dbSNP
18g.31089223T=CA2293654820DSC2c.201+216A= (n.201+216A=)
c.630+216A= (n.630+216A=)
18g.31089224A=CA2293654821DSC2c.201+215T= (n.201+215T=)
c.630+215T= (n.630+215T=)
18g.31089224A>GCA2293654822DSC2c.201+215T>C (n.201+215T>C)
c.630+215T>C (n.630+215T>C)
dbSNP
18g.31089225G>ACA988889978DSC2c.201+214C>T (n.201+214C>T)
c.630+214C>T (n.630+214C>T)
gnomAD v3 gnomAD v4
18g.31089226T>ACA988889980DSC2c.201+213A>T (n.201+213A>T)
c.630+213A>T (n.630+213A>T)
gnomAD v3 gnomAD v4
18g.31089226T>CCA2293654824DSC2c.201+213A>G (n.201+213A>G)
c.630+213A>G (n.630+213A>G)
dbSNP
18g.31089226T=CA2293654823DSC2c.201+213A= (n.201+213A=)
c.630+213A= (n.630+213A=)
18g.31089230A=CA2293654825DSC2c.201+209T= (n.201+209T=)
c.630+209T= (n.630+209T=)
18g.31089230A>CCA629136626DSC2c.201+209T>G (n.201+209T>G)
c.630+209T>G (n.630+209T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089231C>ACA778399301DSC2c.201+208G>T (n.201+208G>T)
c.630+208G>T (n.630+208G>T)
dbSNP gnomAD v3 gnomAD v4
18g.31089231C=CA2293654826DSC2c.201+208G= (n.201+208G=)
c.630+208G= (n.630+208G=)
18g.31089232C>TCA2535358004DSC2c.201+207G>A (n.201+207G>A)
c.630+207G>A (n.630+207G>A)
18g.31089233A=CA2293654827DSC2c.201+206T= (n.201+206T=)
c.630+206T= (n.630+206T=)
18g.31089233A>GCA988889982DSC2c.201+206T>C (n.201+206T>C)
c.630+206T>C (n.630+206T>C)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched