| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 18 | g.31089234T>A | CA2734950959 | DSC2 | c.201+205A>T (n.201+205A>T) c.630+205A>T (n.630+205A>T) | dbSNP |
| 18 | g.31089235A>G | CA988889984 | DSC2 | c.201+204T>C (n.201+204T>C) c.630+204T>C (n.630+204T>C) | gnomAD v3 gnomAD v4 |
| 18 | g.31089237T>A | CA988889985 | DSC2 | c.201+202A>T (n.201+202A>T) c.630+202A>T (n.630+202A>T) | gnomAD v3 gnomAD v4 |
| 18 | g.31089237T>C | CA2293654829 | DSC2 | c.201+202A>G (n.201+202A>G) c.630+202A>G (n.630+202A>G) | dbSNP |
| 18 | g.31089237T= | CA2293654828 | DSC2 | c.201+202A= (n.201+202A=) c.630+202A= (n.630+202A=) | |
| 18 | g.31089242G>C | CA778399311 | DSC2 | c.201+197C>G (n.201+197C>G) c.630+197C>G (n.630+197C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31089242G= | CA2293654830 | DSC2 | c.201+197C= (n.201+197C=) c.630+197C= (n.630+197C=) | |
| 18 | g.31089246C>A | CA778399316 | DSC2 | c.201+193G>T (n.201+193G>T) c.630+193G>T (n.630+193G>T) | dbSNP |
| 18 | g.31089246C= | CA2293654831 | DSC2 | c.201+193G= (n.201+193G=) c.630+193G= (n.630+193G=) | |
| 18 | g.31089249T>G | CA2734950967 | DSC2 | c.201+190A>C (n.201+190A>C) c.630+190A>C (n.630+190A>C) | dbSNP |
| 18 | g.31089250C>A | CA297641676 | DSC2 | c.201+189G>T (n.201+189G>T) c.630+189G>T (n.630+189G>T) | dbSNP |
| 18 | g.31089250C= | CA2293654832 | DSC2 | c.201+189G= (n.201+189G=) c.630+189G= (n.630+189G=) | |
| 18 | g.31089250C>T | CA297641660 | DSC2 | c.201+189G>A (n.201+189G>A) c.630+189G>A (n.630+189G>A) | dbSNP |
| 18 | g.31089256G>A | CA629136627 | DSC2 | c.201+183C>T (n.201+183C>T) c.630+183C>T (n.630+183C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31089256G>C | CA778399322 | DSC2 | c.201+183C>G (n.201+183C>G) c.630+183C>G (n.630+183C>G) | dbSNP |
| 18 | g.31089256G= | CA2293654833 | DSC2 | c.201+183C= (n.201+183C=) c.630+183C= (n.630+183C=) | |
| 18 | g.31089261C= | CA2293654834 | DSC2 | c.201+178G= (n.201+178G=) c.630+178G= (n.630+178G=) | |
| 18 | g.31089261C>G | CA2293654835 | DSC2 | c.201+178G>C (n.201+178G>C) c.630+178G>C (n.630+178G>C) | dbSNP |
| 18 | g.31089261C>T | CA988889988 | DSC2 | c.201+178G>A (n.201+178G>A) c.630+178G>A (n.630+178G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31089264T>G | CA2293654836 | DSC2 | c.201+175A>C (n.201+175A>C) c.630+175A>C (n.630+175A>C) | dbSNP |
| 18 | g.31089264T= | CA2293654837 | DSC2 | c.201+175A= (n.201+175A=) c.630+175A= (n.630+175A=) | |
| 18 | g.31089269T>C | CA2293654838 | DSC2 | c.201+170A>G (n.201+170A>G) c.630+170A>G (n.630+170A>G) | dbSNP |
| 18 | g.31089269T= | CA2293654839 | DSC2 | c.201+170A= (n.201+170A=) c.630+170A= (n.630+170A=) | |
| 18 | g.31089270T>C | CA778399331 | DSC2 | c.201+169A>G (n.201+169A>G) c.630+169A>G (n.630+169A>G) | dbSNP |
| 18 | g.31089270T= | CA2293654840 | DSC2 | c.201+169A= (n.201+169A=) c.630+169A= (n.630+169A=) | |
| 18 | g.31089271T>C | CA2293654842 | DSC2 | c.201+168A>G (n.201+168A>G) c.630+168A>G (n.630+168A>G) | dbSNP |
| 18 | g.31089271T= | CA2293654841 | DSC2 | c.201+168A= (n.201+168A=) c.630+168A= (n.630+168A=) | |
| 18 | g.31089274T>A | CA297641677 | DSC2 | c.201+165A>T (n.201+165A>T) c.630+165A>T (n.630+165A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31089274T= | CA2293654843 | DSC2 | c.201+165A= (n.201+165A=) c.630+165A= (n.630+165A=) | |
| 18 | g.31089275C>A | CA629136628 | DSC2 | c.201+164G>T (n.201+164G>T) c.630+164G>T (n.630+164G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31089275C= | CA2293654844 | DSC2 | c.201+164G= (n.201+164G=) c.630+164G= (n.630+164G=) | |
| 18 | g.31089275C>T | CA2734722897 | DSC2 | c.201+164G>A (n.201+164G>A) c.630+164G>A (n.630+164G>A) | dbSNP |