Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31089133T>C | CA988889863 | DSC2 | c.201+306A>G (n.201+306A>G) c.630+306A>G (n.630+306A>G) | gnomAD v3 gnomAD v4 |
18 | g.31089134C>A | CA988889864 | DSC2 | c.201+305G>T (n.201+305G>T) c.630+305G>T (n.630+305G>T) | gnomAD v3 gnomAD v4 |
18 | g.31089139T>G | CA988889865 | DSC2 | c.201+300A>C (n.201+300A>C) c.630+300A>C (n.630+300A>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089139T= | CA2293654750 | DSC2 | c.201+300A= (n.201+300A=) c.630+300A= (n.630+300A=) | |
18 | g.31089142G>A | CA2293654752 | DSC2 | c.201+297C>T (n.201+297C>T) c.630+297C>T (n.630+297C>T) | dbSNP |
18 | g.31089142G= | CA2293654751 | DSC2 | c.201+297C= (n.201+297C=) c.630+297C= (n.630+297C=) | |
18 | g.31089143T>C | CA988889866 | DSC2 | c.201+296A>G (n.201+296A>G) c.630+296A>G (n.630+296A>G) | gnomAD v3 gnomAD v4 |
18 | g.31089143T>G | CA988889867 | DSC2 | c.201+296A>C (n.201+296A>C) c.630+296A>C (n.630+296A>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089144G>A | CA778399123 | DSC2 | c.201+295C>T (n.201+295C>T) c.630+295C>T (n.630+295C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089144G= | CA2293654753 | DSC2 | c.201+295C= (n.201+295C=) c.630+295C= (n.630+295C=) | |
18 | g.31089145G>A | CA988889868 | DSC2 | c.201+294C>T (n.201+294C>T) c.630+294C>T (n.630+294C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089145G= | CA2293654754 | DSC2 | c.201+294C= (n.201+294C=) c.630+294C= (n.630+294C=) | |
18 | g.31089145G>T | CA297641490 | DSC2 | c.201+294C>A (n.201+294C>A) c.630+294C>A (n.630+294C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089146C>A | CA778399130 | DSC2 | c.201+293G>T (n.201+293G>T) c.630+293G>T (n.630+293G>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089146C= | CA2293654755 | DSC2 | c.201+293G= (n.201+293G=) c.630+293G= (n.630+293G=) | |
18 | g.31089148A>C | CA2811993233 | DSC2 | c.201+291T>G (n.201+291T>G) c.630+291T>G (n.630+291T>G) | |
18 | g.31089148A>G | CA988889869 | DSC2 | c.201+291T>C (n.201+291T>C) c.630+291T>C (n.630+291T>C) | gnomAD v3 gnomAD v4 |
18 | g.31089148A>T | CA2811993234 | DSC2 | c.201+291T>A (n.201+291T>A) c.630+291T>A (n.630+291T>A) | |
18 | g.31089149A>C | CA2811993235 | DSC2 | c.201+290T>G (n.201+290T>G) c.630+290T>G (n.630+290T>G) | |
18 | g.31089150G>T | CA2591641487 | DSC2 | c.201+289C>A (n.201+289C>A) c.630+289C>A (n.630+289C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089151T>A | CA2293654757 | DSC2 | c.201+288A>T (n.201+288A>T) c.630+288A>T (n.630+288A>T) | dbSNP |
18 | g.31089151T>C | CA2811993236 | DSC2 | c.201+288A>G (n.201+288A>G) c.630+288A>G (n.630+288A>G) | |
18 | g.31089151T>G | CA988889871 | DSC2 | c.201+288A>C (n.201+288A>C) c.630+288A>C (n.630+288A>C) | gnomAD v3 gnomAD v4 |
18 | g.31089151T= | CA2293654756 | DSC2 | c.201+288A= (n.201+288A=) c.630+288A= (n.630+288A=) | |
18 | g.31089152G>A | CA988889872 | DSC2 | c.201+287C>T (n.201+287C>T) c.630+287C>T (n.630+287C>T) | gnomAD v3 gnomAD v4 |
18 | g.31089152G>T | CA988889873 | DSC2 | c.201+287C>A (n.201+287C>A) c.630+287C>A (n.630+287C>A) | gnomAD v3 gnomAD v4 |
18 | g.31089153A>T | CA988889874 | DSC2 | c.201+286T>A (n.201+286T>A) c.630+286T>A (n.630+286T>A) | gnomAD v3 gnomAD v4 |
18 | g.31089154G>A | CA988889875 | DSC2 | c.201+285C>T (n.201+285C>T) c.630+285C>T (n.630+285C>T) | gnomAD v3 gnomAD v4 |
18 | g.31089154G>T | CA988889876 | DSC2 | c.201+285C>A (n.201+285C>A) c.630+285C>A (n.630+285C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089155A>T | CA988889877 | DSC2 | c.201+284T>A (n.201+284T>A) c.630+284T>A (n.630+284T>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089156T>C | CA988889880 | DSC2 | c.201+283A>G (n.201+283A>G) c.630+283A>G (n.630+283A>G) | gnomAD v3 gnomAD v4 |
18 | g.31089156T>G | CA988889879 | DSC2 | c.201+283A>C (n.201+283A>C) c.630+283A>C (n.630+283A>C) | gnomAD v3 gnomAD v4 |
18 | g.31089156_31089157del | CA988889878 | DSC2 | c.201+282_201+283del (n.201+282_201+283del) c.630+282_630+283del (n.630+282_630+283del) | gnomAD v3 gnomAD v4 |
18 | g.31089157G>C | CA297641496 | DSC2 | c.201+282C>G (n.201+282C>G) c.630+282C>G (n.630+282C>G) | dbSNP |
18 | g.31089157G= | CA2293654758 | DSC2 | c.201+282C= (n.201+282C=) c.630+282C= (n.630+282C=) | |
18 | g.31089157G>T | CA988889881 | DSC2 | c.201+282C>A (n.201+282C>A) c.630+282C>A (n.630+282C>A) | gnomAD v3 gnomAD v4 |
18 | g.31089158C>A | CA988889882 | DSC2 | c.201+281G>T (n.201+281G>T) c.630+281G>T (n.630+281G>T) | gnomAD v3 gnomAD v4 |
18 | g.31089158C= | CA2293654759 | DSC2 | c.201+281G= (n.201+281G=) c.630+281G= (n.630+281G=) | |
18 | g.31089158C>G | CA778399139 | DSC2 | c.201+281G>C (n.201+281G>C) c.630+281G>C (n.630+281G>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089158C>T | CA988889883 | DSC2 | c.201+281G>A (n.201+281G>A) c.630+281G>A (n.630+281G>A) | gnomAD v3 gnomAD v4 |
18 | g.31089159T>G | CA2529916629 | DSC2 | c.201+280A>C (n.201+280A>C) c.630+280A>C (n.630+280A>C) | |
18 | g.31089159_31089160insCC | CA2591641493 | DSC2 | c.201+279_201+280insGG (n.201+279_201+280insGG) c.630+279_630+280insGG (n.630+279_630+280insGG) | gnomAD v3 gnomAD v4 |
18 | g.31089160G>A | CA629136603 | DSC2 | c.201+279C>T (n.201+279C>T) c.630+279C>T (n.630+279C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089160G= | CA2293654760 | DSC2 | c.201+279C= (n.201+279C=) c.630+279C= (n.630+279C=) | |
18 | g.31089160G>T | CA988889885 | DSC2 | c.201+279C>A (n.201+279C>A) c.630+279C>A (n.630+279C>A) | gnomAD v3 gnomAD v4 |
18 | g.31089161T>C | CA778399146 | DSC2 | c.201+278A>G (n.201+278A>G) c.630+278A>G (n.630+278A>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089161T= | CA2293654761 | DSC2 | c.201+278A= (n.201+278A=) c.630+278A= (n.630+278A=) | |
18 | g.31089163_31089164del | CA988889887 | DSC2 | c.201+277_201+278del (n.201+277_201+278del) c.630+277_630+278del (n.630+277_630+278del) | gnomAD v3 gnomAD v4 |
18 | g.31089162C>A | CA629136604 | DSC2 | c.201+277G>T (n.201+277G>T) c.630+277G>T (n.630+277G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089162C= | CA2293654762 | DSC2 | c.201+277G= (n.201+277G=) c.630+277G= (n.630+277G=) | |
18 | g.31089162C>T | CA988889889 | DSC2 | c.201+277G>A (n.201+277G>A) c.630+277G>A (n.630+277G>A) | gnomAD v3 gnomAD v4 |
18 | g.31089162_31089163delinsCT | CA2293654763 | DSC2 | c.201+276_201+277delinsAG (n.201+276_201+277delinsAG) c.630+276_630+277delinsAG (n.630+276_630+277delinsAG) | |
18 | g.31089162_31089164del | CA988889888 | DSC2 | c.201+275_201+277del (n.201+275_201+277del) c.630+275_630+277del (n.630+275_630+277del) | gnomAD v3 gnomAD v4 |
18 | g.31089162_31089163insAA | CA2293654766 | DSC2 | c.201+276_201+277insTT (n.201+276_201+277insTT) c.630+276_630+277insTT (n.630+276_630+277insTT) | dbSNP |
18 | g.31089163del | CA629136605 | DSC2 | c.201+276del (n.201+276del) c.630+276del (n.630+276del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089163T>A | CA629136606 | DSC2 | c.201+276A>T (n.201+276A>T) c.630+276A>T (n.630+276A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089163T>C | CA988889892 | DSC2 | c.201+276A>G (n.201+276A>G) c.630+276A>G (n.630+276A>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089163T= | CA2293654765 | DSC2 | c.201+276A= (n.201+276A=) c.630+276A= (n.630+276A=) | |
18 | g.31089163_31089164delinsTC | CA2293654764 | DSC2 | c.201+275_201+276delinsGA (n.201+275_201+276delinsGA) c.630+275_630+276delinsGA (n.630+275_630+276delinsGA) | |
18 | g.31089163_31089164insA | CA629136607 | DSC2 | c.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 |
18 | g.31089163_31089164insAA | CA629136608 | DSC2 | c.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 |
18 | g.31089163_31089164insAAA | CA629136609 | DSC2 | c.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 |
18 | g.31089163_31089164insAAAA | CA988889895 | DSC2 | c.201+275_201+276insTTTT (n.201+275_201+276insTTTT) c.630+275_630+276insTTTT (n.630+275_630+276insTTTT) | gnomAD v3 gnomAD v4 |
18 | g.31089163_31089164insAAAAA | CA2557900577 | DSC2 | c.201+275_201+276insTTTTT (n.201+275_201+276insTTTTT) c.630+275_630+276insTTTTT (n.630+275_630+276insTTTTT) | |
18 | g.31089164del | CA2293654769 | DSC2 | c.201+275del (n.201+275del) c.630+275del (n.630+275del) | dbSNP |
18 | g.31089164C>A | CA297641503 | DSC2 | c.201+275G>T (n.201+275G>T) c.630+275G>T (n.630+275G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089164C= | CA2293654768 | DSC2 | c.201+275G= (n.201+275G=) c.630+275G= (n.630+275G=) | |
18 | g.31089164_31089165dup | CA503389490 | DSC2 | c.201+274_201+275dup (n.201+274_201+275dup) c.630+274_630+275dup (n.630+274_630+275dup) | |
18 | g.31089164_31089169delinsCAAAAA | CA2293654767 | DSC2 | c.201+270_201+275delinsTTTTTG (n.201+270_201+275delinsTTTTTG) c.630+270_630+275delinsTTTTTG (n.630+270_630+275delinsTTTTTG) | |
18 | g.31089164_31089165insGA | CA2293654771 | DSC2 | c.201+274_201+275insTC (n.201+274_201+275insTC) c.630+274_630+275insTC (n.630+274_630+275insTC) | dbSNP |
18 | g.31089165A= | CA2293654770 | DSC2 | c.201+274T= (n.201+274T=) c.630+274T= (n.630+274T=) | |
18 | g.31089165A>G | CA2501992887 | DSC2 | c.201+274T>C (n.201+274T>C) c.630+274T>C (n.630+274T>C) | |
18 | g.31089183_31089184insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2741576152 | DSC2 | c.201+274_201+275insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.201+274_201+275insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.630+274_630+275insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.630+274_630+275insTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
18 | g.31089183dup | CA297641514 | DSC2 | c.201+274dup (n.201+274dup) c.630+274dup (n.630+274dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089182_31089183dup | CA297641512 | DSC2 | c.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 |
18 | g.31089181_31089183dup | CA297641517 | DSC2 | c.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 |
18 | g.31089180_31089183dup | CA629136611 | DSC2 | c.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 |
18 | g.31089179_31089183dup | CA988889919 | DSC2 | c.201+270_201+274dup (n.201+270_201+274dup) c.630+270_630+274dup (n.630+270_630+274dup) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089178_31089183dup | CA988889913 | DSC2 | c.201+269_201+274dup (n.201+269_201+274dup) c.630+269_630+274dup (n.630+269_630+274dup) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089177_31089183dup | CA988889910 | DSC2 | c.201+268_201+274dup (n.201+268_201+274dup) c.630+268_630+274dup (n.630+268_630+274dup) | gnomAD v3 gnomAD v4 |
18 | g.31089176_31089183dup | CA919958096 | DSC2 | c.201+267_201+274dup (n.201+267_201+274dup) c.630+267_630+274dup (n.630+267_630+274dup) | dbSNP |
18 | g.31089175_31089183dup | CA2741576151 | DSC2 | c.201+266_201+274dup (n.201+266_201+274dup) c.630+266_630+274dup (n.630+266_630+274dup) | |
18 | g.31089174_31089183dup | CA988889908 | DSC2 | c.201+265_201+274dup (n.201+265_201+274dup) c.630+265_630+274dup (n.630+265_630+274dup) | dbSNP |
18 | g.31089183del | CA629136610 | DSC2 | c.201+274del (n.201+274del) c.630+274del (n.630+274del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089182_31089183del | CA778399206 | DSC2 | c.201+273_201+274del (n.201+273_201+274del) c.630+273_630+274del (n.630+273_630+274del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089181_31089183del | CA778399185 | DSC2 | c.201+272_201+274del (n.201+272_201+274del) c.630+272_630+274del (n.630+272_630+274del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089180_31089183del | CA988889907 | DSC2 | c.201+271_201+274del (n.201+271_201+274del) c.630+271_630+274del (n.630+271_630+274del) | gnomAD v3 gnomAD v4 |
18 | g.31089179_31089183del | CA988889905 | DSC2 | c.201+270_201+274del (n.201+270_201+274del) c.630+270_630+274del (n.630+270_630+274del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089165_31089166insG | CA629136612 | DSC2 | c.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 |
18 | g.31089166A= | CA2293654772 | DSC2 | c.201+273T= (n.201+273T=) c.630+273T= (n.630+273T=) | |
18 | g.31089166A>G | CA2293654773 | DSC2 | c.201+273T>C (n.201+273T>C) c.630+273T>C (n.630+273T>C) | dbSNP |
18 | g.31089167A= | CA2293654774 | DSC2 | c.201+272T= (n.201+272T=) c.630+272T= (n.630+272T=) | |
18 | g.31089167A>C | CA297641521 | DSC2 | c.201+272T>G (n.201+272T>G) c.630+272T>G (n.630+272T>G) | dbSNP |
18 | g.31089169_31089170insGA | CA629136613 | DSC2 | c.201+270_201+271insCT (n.201+270_201+271insCT) c.630+270_630+271insCT (n.630+270_630+271insCT) | gnomAD v2 |
18 | g.31089171_31089172insGTAA | CA2811993237 | DSC2 | c.201+269_201+270insACTT (n.201+269_201+270insACTT) c.630+269_630+270insACTT (n.630+269_630+270insACTT) | |
18 | g.31089173A= | CA2293654775 | DSC2 | c.201+266T= (n.201+266T=) c.630+266T= (n.630+266T=) | |
18 | g.31089174A= | CA2293654776 | DSC2 | c.201+265T= (n.201+265T=) c.630+265T= (n.630+265T=) | |
18 | g.31089174A>G | CA988889934 | DSC2 | c.201+265T>C (n.201+265T>C) c.630+265T>C (n.630+265T>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089174_31089175insCA | CA297641533 | DSC2 | c.201+265_201+266insGT (n.201+265_201+266insGT) c.630+265_630+266insGT (n.630+265_630+266insGT) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089174_31089175insC | CA629136614 | DSC2 | c.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 |
18 | g.31089175A= | CA2293654777 | DSC2 | c.201+264T= (n.201+264T=) c.630+264T= (n.630+264T=) | |
18 | g.31089175A>C | CA2293654778 | DSC2 | c.201+264T>G (n.201+264T>G) c.630+264T>G (n.630+264T>G) | dbSNP |
18 | g.31089175A>T | CA297641540 | DSC2 | c.201+264T>A (n.201+264T>A) c.630+264T>A (n.630+264T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089175_31089176insCA | CA778399225 | DSC2 | c.201+264_201+265insGT (n.201+264_201+265insGT) c.630+264_630+265insGT (n.630+264_630+265insGT) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089176A= | CA2293654779 | DSC2 | c.201+263T= (n.201+263T=) c.630+263T= (n.630+263T=) | |
18 | g.31089176A>C | CA2293654780 | DSC2 | c.201+263T>G (n.201+263T>G) c.630+263T>G (n.630+263T>G) | dbSNP |
18 | g.31089176_31089177insC | CA2293654782 | DSC2 | c.201+262_201+263insG (n.201+262_201+263insG) c.630+262_630+263insG (n.630+262_630+263insG) | dbSNP |
18 | g.31089177A= | CA2293654781 | DSC2 | c.201+262T= (n.201+262T=) c.630+262T= (n.630+262T=) | |
18 | g.31089177_31089178insCA | CA778399233 | DSC2 | c.201+262_201+263insGT (n.201+262_201+263insGT) c.630+262_630+263insGT (n.630+262_630+263insGT) | dbSNP |
18 | g.31089178A= | CA2293654783 | DSC2 | c.201+261T= (n.201+261T=) c.630+261T= (n.630+261T=) | |
18 | g.31089178A>C | CA778399243 | DSC2 | c.201+261T>G (n.201+261T>G) c.630+261T>G (n.630+261T>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089178_31089179insCA | CA629136615 | DSC2 | c.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 |
18 | g.31089179A= | CA2293654784 | DSC2 | c.201+260T= (n.201+260T=) c.630+260T= (n.630+260T=) | |
18 | g.31089179_31089180insC | CA778399249 | DSC2 | c.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 |
18 | g.31089180A= | CA2293654785 | DSC2 | c.201+259T= (n.201+259T=) c.630+259T= (n.630+259T=) | |
18 | g.31089180_31089181insCA | CA988889937 | DSC2 | c.201+259_201+260insGT (n.201+259_201+260insGT) c.630+259_630+260insGT (n.630+259_630+260insGT) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089181A= | CA2293654787 | DSC2 | c.201+258T= (n.201+258T=) c.630+258T= (n.630+258T=) | |
18 | g.31089181A>C | CA629136616 | DSC2 | c.201+258T>G (n.201+258T>G) c.630+258T>G (n.630+258T>G) | dbSNP gnomAD v2 |
18 | g.31089182_31089183insTAA | CA2293654786 | DSC2 | c.201+258_201+259insATT (n.201+258_201+259insATT) c.630+258_630+259insATT (n.630+258_630+259insATT) | dbSNP |
18 | g.31089182A= | CA2293654788 | DSC2 | c.201+257T= (n.201+257T=) c.630+257T= (n.630+257T=) | |
18 | g.31089182A>C | CA2293654789 | DSC2 | c.201+257T>G (n.201+257T>G) c.630+257T>G (n.630+257T>G) | dbSNP |
18 | g.31089183A= | CA2293654791 | DSC2 | c.201+256T= (n.201+256T=) c.630+256T= (n.630+256T=) | |
18 | g.31089183A>C | CA297641546 | DSC2 | c.201+256T>G (n.201+256T>G) c.630+256T>G (n.630+256T>G) | dbSNP |
18 | g.31089183A>G | CA778399259 | DSC2 | c.201+256T>C (n.201+256T>C) c.630+256T>C (n.630+256T>C) | dbSNP |
18 | g.31089183_31089184insACTGTA | CA2811993238 | DSC2 | c.201+256_201+257insACAGTT (n.201+256_201+257insACAGTT) c.630+256_630+257insACAGTT (n.630+256_630+257insACAGTT) | |
18 | g.31089183_31089184dup | CA778399255 | DSC2 | c.201+255_201+256dup (n.201+255_201+256dup) c.630+255_630+256dup (n.630+255_630+256dup) | dbSNP |
18 | g.31089183_31089191delinsACTGTTCTT | CA2293654790 | DSC2 | c.201+248_201+256delinsAAGAACAGT (n.201+248_201+256delinsAAGAACAGT) c.630+248_630+256delinsAAGAACAGT (n.630+248_630+256delinsAAGAACAGT) | |
18 | g.31089183_31089184insAC | CA629136618 | DSC2 | c.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 |
18 | g.31089183_31089184insAG | CA2556835699 | DSC2 | c.201+255_201+256insCT (n.201+255_201+256insCT) c.630+255_630+256insCT (n.630+255_630+256insCT) | |
18 | g.31089183_31089184insAAAC | CA988889939 | DSC2 | c.201+255_201+256insGTTT (n.201+255_201+256insGTTT) c.630+255_630+256insGTTT (n.630+255_630+256insGTTT) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089184C>A | CA629136619 | DSC2 | c.201+255G>T (n.201+255G>T) c.630+255G>T (n.630+255G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089184C= | CA2293654792 | DSC2 | c.201+255G= (n.201+255G=) c.630+255G= (n.630+255G=) | |
18 | g.31089184_31089185del | CA988889940 | DSC2 | c.201+254_201+255del (n.201+254_201+255del) c.630+254_630+255del (n.630+254_630+255del) | gnomAD v3 gnomAD v4 |
18 | g.31089184_31089192del | CA988889938 | DSC2 | c.201+247_201+255del (n.201+247_201+255del) c.630+247_630+255del (n.630+247_630+255del) | gnomAD v3 gnomAD v4 |
18 | g.31089185_31089192del | CA629136617 | DSC2 | c.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 |
18 | g.31089185T>A | CA629136620 | DSC2 | c.201+254A>T (n.201+254A>T) c.630+254A>T (n.630+254A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089185T= | CA2293654793 | DSC2 | c.201+254A= (n.201+254A=) c.630+254A= (n.630+254A=) | |
18 | g.31089185_31089186insAAAA | CA988889941 | DSC2 | c.201+253_201+254insTTTT (n.201+253_201+254insTTTT) c.630+253_630+254insTTTT (n.630+253_630+254insTTTT) | gnomAD v3 gnomAD v4 |
18 | g.31089186G>A | CA988889942 | DSC2 | c.201+253C>T (n.201+253C>T) c.630+253C>T (n.630+253C>T) | gnomAD v3 gnomAD v4 |
18 | g.31089186G>T | CA988889943 | DSC2 | c.201+253C>A (n.201+253C>A) c.630+253C>A (n.630+253C>A) | gnomAD v3 gnomAD v4 |
18 | g.31089187T>A | CA988889944 | DSC2 | c.201+252A>T (n.201+252A>T) c.630+252A>T (n.630+252A>T) | gnomAD v3 gnomAD v4 |
18 | g.31089187T>G | CA988889945 | DSC2 | c.201+252A>C (n.201+252A>C) c.630+252A>C (n.630+252A>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089187T= | CA2293654794 | DSC2 | c.201+252A= (n.201+252A=) c.630+252A= (n.630+252A=) | |
18 | g.31089187_31089199delinsTTCTTCAAAGTGG | CA2293654795 | DSC2 | c.201+240_201+252delinsCCACTTTGAAGAA (n.201+240_201+252delinsCCACTTTGAAGAA) c.630+240_630+252delinsCCACTTTGAAGAA (n.630+240_630+252delinsCCACTTTGAAGAA) | |
18 | g.31089189_31089200del | CA629136621 | DSC2 | c.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 |
18 | g.31089189C>A | CA988889946 | DSC2 | c.201+250G>T (n.201+250G>T) c.630+250G>T (n.630+250G>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089189C= | CA2293654796 | DSC2 | c.201+250G= (n.201+250G=) c.630+250G= (n.630+250G=) | |
18 | g.31089189C>T | CA988889947 | DSC2 | c.201+250G>A (n.201+250G>A) c.630+250G>A (n.630+250G>A) | gnomAD v3 gnomAD v4 |
18 | g.31089192C>A | CA629136622 | DSC2 | c.201+247G>T (n.201+247G>T) c.630+247G>T (n.630+247G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089192C= | CA2293654797 | DSC2 | c.201+247G= (n.201+247G=) c.630+247G= (n.630+247G=) | |
18 | g.31089192C>T | CA988889948 | DSC2 | c.201+247G>A (n.201+247G>A) c.630+247G>A (n.630+247G>A) | gnomAD v3 gnomAD v4 |
18 | g.31089193A= | CA2293654798 | DSC2 | c.201+246T= (n.201+246T=) c.630+246T= (n.630+246T=) | |
18 | g.31089193A>G | CA2293654799 | DSC2 | c.201+246T>C (n.201+246T>C) c.630+246T>C (n.630+246T>C) | dbSNP |
18 | g.31089195A= | CA2293654800 | DSC2 | c.201+244T= (n.201+244T=) c.630+244T= (n.630+244T=) | |
18 | g.31089195A>G | CA629136623 | DSC2 | c.201+244T>C (n.201+244T>C) c.630+244T>C (n.630+244T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089196del | CA988889949 | DSC2 | c.201+243del (n.201+243del) c.630+243del (n.630+243del) | gnomAD v3 gnomAD v4 |
18 | g.31089196G>C | CA988889950 | DSC2 | c.201+243C>G (n.201+243C>G) c.630+243C>G (n.630+243C>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089196G= | CA2293654801 | DSC2 | c.201+243C= (n.201+243C=) c.630+243C= (n.630+243C=) | |
18 | g.31089197T>A | CA988889951 | DSC2 | c.201+242A>T (n.201+242A>T) c.630+242A>T (n.630+242A>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089197T>G | CA297641552 | DSC2 | c.201+242A>C (n.201+242A>C) c.630+242A>C (n.630+242A>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089197T= | CA2293654803 | DSC2 | c.201+242A= (n.201+242A=) c.630+242A= (n.630+242A=) | |
18 | g.31089197_31089218delinsTGGTACTGTTGTGGGGGAAAAA | CA2293654802 | DSC2 | c.201+221_201+242delinsTTTTTCCCCCACAACAGTACCA (n.201+221_201+242delinsTTTTTCCCCCACAACAGTACCA) c.630+221_630+242delinsTTTTTCCCCCACAACAGTACCA (n.630+221_630+242delinsTTTTTCCCCCACAACAGTACCA) | |
18 | g.31089199del | CA2505096325 | DSC2 | c.201+241del (n.201+241del) c.630+241del (n.630+241del) | |
18 | g.31089198_31089218del | CA988889952 | DSC2 | c.201+221_201+241del (n.201+221_201+241del) c.630+221_630+241del (n.630+221_630+241del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089199G>A | CA297641557 | DSC2 | c.201+240C>T (n.201+240C>T) c.630+240C>T (n.630+240C>T) | dbSNP |
18 | g.31089199G= | CA2293654804 | DSC2 | c.201+240C= (n.201+240C=) c.630+240C= (n.630+240C=) | |
18 | g.31089199G>T | CA297641564 | DSC2 | c.201+240C>A (n.201+240C>A) c.630+240C>A (n.630+240C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089200T>A | CA988889954 | DSC2 | c.201+239A>T (n.201+239A>T) c.630+239A>T (n.630+239A>T) | gnomAD v3 gnomAD v4 |
18 | g.31089200T>G | CA988889956 | DSC2 | c.201+239A>C (n.201+239A>C) c.630+239A>C (n.630+239A>C) | gnomAD v3 gnomAD v4 |
18 | g.31089201A= | CA2293654805 | DSC2 | c.201+238T= (n.201+238T=) c.630+238T= (n.630+238T=) | |
18 | g.31089201A>G | CA778399269 | DSC2 | c.201+238T>C (n.201+238T>C) c.630+238T>C (n.630+238T>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089202C>A | CA988889962 | DSC2 | c.201+237G>T (n.201+237G>T) c.630+237G>T (n.630+237G>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089202C= | CA2293654806 | DSC2 | c.201+237G= (n.201+237G=) c.630+237G= (n.630+237G=) | |
18 | g.31089202C>T | CA629136624 | DSC2 | c.201+237G>A (n.201+237G>A) c.630+237G>A (n.630+237G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089204G>A | CA778399279 | DSC2 | c.201+235C>T (n.201+235C>T) c.630+235C>T (n.630+235C>T) | dbSNP |
18 | g.31089204G= | CA2293654807 | DSC2 | c.201+235C= (n.201+235C=) c.630+235C= (n.630+235C=) | |
18 | g.31089206dup | CA988889964 | DSC2 | c.201+234dup (n.201+234dup) c.630+234dup (n.630+234dup) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089208_31089209delinsTG | CA2293654808 | DSC2 | c.201+230_201+231delinsCA (n.201+230_201+231delinsCA) c.630+230_630+231delinsCA (n.630+230_630+231delinsCA) | |
18 | g.31089209G>A | CA778399281 | DSC2 | c.201+230C>T (n.201+230C>T) c.630+230C>T (n.630+230C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089209G= | CA2293654810 | DSC2 | c.201+230C= (n.201+230C=) c.630+230C= (n.630+230C=) | |
18 | g.31089213dup | CA2293654809 | DSC2 | c.201+230dup (n.201+230dup) c.630+230dup (n.630+230dup) | dbSNP |
18 | g.31089213del | CA297641583 | DSC2 | c.201+230del (n.201+230del) c.630+230del (n.630+230del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089211G>A | CA297641593 | DSC2 | c.201+228C>T (n.201+228C>T) c.630+228C>T (n.630+228C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089211G= | CA2293654811 | DSC2 | c.201+228C= (n.201+228C=) c.630+228C= (n.630+228C=) | |
18 | g.31089212G>A | CA297641600 | DSC2 | c.201+227C>T (n.201+227C>T) c.630+227C>T (n.630+227C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089212G>C | CA2539144573 | DSC2 | c.201+227C>G (n.201+227C>G) c.630+227C>G (n.630+227C>G) | |
18 | g.31089212G= | CA2293654812 | DSC2 | c.201+227C= (n.201+227C=) c.630+227C= (n.630+227C=) | |
18 | g.31089213G>A | CA988889967 | DSC2 | c.201+226C>T (n.201+226C>T) c.630+226C>T (n.630+226C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089213G= | CA2293654814 | DSC2 | c.201+226C= (n.201+226C=) c.630+226C= (n.630+226C=) | |
18 | g.31089213_31089214delinsGA | CA2293654813 | DSC2 | c.201+225_201+226delinsTC (n.201+225_201+226delinsTC) c.630+225_630+226delinsTC (n.630+225_630+226delinsTC) | |
18 | g.31089214A= | CA2293654815 | DSC2 | c.201+225T= (n.201+225T=) c.630+225T= (n.630+225T=) | |
18 | g.31089214A>G | CA297641621 | DSC2 | c.201+225T>C (n.201+225T>C) c.630+225T>C (n.630+225T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089222dup | CA297641612 | DSC2 | c.201+225dup (n.201+225dup) c.630+225dup (n.630+225dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089222del | CA297641626 | DSC2 | c.201+225del (n.201+225del) c.630+225del (n.630+225del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089215A= | CA2293654816 | DSC2 | c.201+224T= (n.201+224T=) c.630+224T= (n.630+224T=) | |
18 | g.31089215A>G | CA778399288 | DSC2 | c.201+224T>C (n.201+224T>C) c.630+224T>C (n.630+224T>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089218A= | CA2293654817 | DSC2 | c.201+221T= (n.201+221T=) c.630+221T= (n.630+221T=) | |
18 | g.31089218A>C | CA297641643 | DSC2 | c.201+221T>G (n.201+221T>G) c.630+221T>G (n.630+221T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089219A= | CA2293654818 | DSC2 | c.201+220T= (n.201+220T=) c.630+220T= (n.630+220T=) | |
18 | g.31089219A>G | CA297641649 | DSC2 | c.201+220T>C (n.201+220T>C) c.630+220T>C (n.630+220T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089222A= | CA2293654819 | DSC2 | c.201+217T= (n.201+217T=) c.630+217T= (n.630+217T=) | |
18 | g.31089222A>T | CA778399289 | DSC2 | c.201+217T>A (n.201+217T>A) c.630+217T>A (n.630+217T>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089223T>A | CA629136625 | DSC2 | c.201+216A>T (n.201+216A>T) c.630+216A>T (n.630+216A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089223T>C | CA297641654 | DSC2 | c.201+216A>G (n.201+216A>G) c.630+216A>G (n.630+216A>G) | dbSNP |
18 | g.31089223T= | CA2293654820 | DSC2 | c.201+216A= (n.201+216A=) c.630+216A= (n.630+216A=) | |
18 | g.31089224A= | CA2293654821 | DSC2 | c.201+215T= (n.201+215T=) c.630+215T= (n.630+215T=) | |
18 | g.31089224A>G | CA2293654822 | DSC2 | c.201+215T>C (n.201+215T>C) c.630+215T>C (n.630+215T>C) | dbSNP |
18 | g.31089225G>A | CA988889978 | DSC2 | c.201+214C>T (n.201+214C>T) c.630+214C>T (n.630+214C>T) | gnomAD v3 gnomAD v4 |
18 | g.31089226T>A | CA988889980 | DSC2 | c.201+213A>T (n.201+213A>T) c.630+213A>T (n.630+213A>T) | gnomAD v3 gnomAD v4 |
18 | g.31089226T>C | CA2293654824 | DSC2 | c.201+213A>G (n.201+213A>G) c.630+213A>G (n.630+213A>G) | dbSNP |
18 | g.31089226T= | CA2293654823 | DSC2 | c.201+213A= (n.201+213A=) c.630+213A= (n.630+213A=) | |
18 | g.31089230A= | CA2293654825 | DSC2 | c.201+209T= (n.201+209T=) c.630+209T= (n.630+209T=) | |
18 | g.31089230A>C | CA629136626 | DSC2 | c.201+209T>G (n.201+209T>G) c.630+209T>G (n.630+209T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31089231C>A | CA778399301 | DSC2 | c.201+208G>T (n.201+208G>T) c.630+208G>T (n.630+208G>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31089231C= | CA2293654826 | DSC2 | c.201+208G= (n.201+208G=) c.630+208G= (n.630+208G=) | |
18 | g.31089232C>T | CA2535358004 | DSC2 | c.201+207G>A (n.201+207G>A) c.630+207G>A (n.630+207G>A) | |
18 | g.31089233A= | CA2293654827 | DSC2 | c.201+206T= (n.201+206T=) c.630+206T= (n.630+206T=) | |
18 | g.31089233A>G | CA988889982 | DSC2 | c.201+206T>C (n.201+206T>C) c.630+206T>C (n.630+206T>C) | dbSNP gnomAD v3 gnomAD v4 |