Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31536270del | CA2576480445 | DSG2 | c.1492del (p.Thr498HisfsTer2) c.958del (p.Thr320HisfsTer2) | |
18 | g.31536270A>C | CA402141455 | DSG2 | c.1492A>C (p.Thr498Pro) c.958A>C (p.Thr320Pro) | |
18 | g.31536270A>G | CA402141457 | DSG2 | c.1492A>G (p.Thr498Ala) c.958A>G (p.Thr320Ala) | |
18 | g.31536270A>T | CA402141461 | DSG2 | c.1492A>T (p.Thr498Ser) c.958A>T (p.Thr320Ser) | |
18 | g.31536271C>A | CA402141464 | DSG2 | c.1493C>A (p.Thr498Lys) c.959C>A (p.Thr320Lys) | |
18 | g.31536271C>G | CA402141467 | DSG2 | c.1493C>G (p.Thr498Arg) c.959C>G (p.Thr320Arg) | |
18 | g.31536271C>T | CA402141469 | DSG2 | c.1493C>T (p.Thr498Ile) c.959C>T (p.Thr320Ile) | gnomAD v4 |
18 | g.31536272A>C | CA503600700 | DSG2 | c.1494A>C (p.Thr498=) c.960A>C (p.Thr320=) | COSMIC |
18 | g.31536272A>G | CA503600701 | DSG2 | c.1494A>G (p.Thr498=) c.960A>G (p.Thr320=) | |
18 | g.31536272A>T | CA503600702 | DSG2 | c.1494A>T (p.Thr498=) c.960A>T (p.Thr320=) | |
18 | g.31536273C>A | CA042655 | DSG2 | c.1495C>A (p.Leu499Met) c.961C>A (p.Leu321Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.31536273C= | CA2293861949 | DSG2 | c.1495C= (p.Leu499=) c.961C= (p.Leu321=) | |
18 | g.31536273C>G | CA402141473 | DSG2 | c.1495C>G (p.Leu499Val) c.961C>G (p.Leu321Val) | |
18 | g.31536273C>T | CA503600703 | DSG2 | c.1495C>T (p.Leu499=) c.961C>T (p.Leu321=) | |
18 | g.31536274T>A | CA402141479 | DSG2 | c.1496T>A (p.Leu499Gln) c.962T>A (p.Leu321Gln) | |
18 | g.31536274T>C | CA402141476 | DSG2 | c.1496T>C (p.Leu499Pro) c.962T>C (p.Leu321Pro) | ClinVar |
18 | g.31536274T>G | CA402141475 | DSG2 | c.1496T>G (p.Leu499Arg) c.962T>G (p.Leu321Arg) | |
18 | g.31536275G>A | CA503600704 | DSG2 | c.1497G>A (p.Leu499=) c.963G>A (p.Leu321=) | |
18 | g.31536275G>C | CA503600706 | DSG2 | c.1497G>C (p.Leu499=) c.963G>C (p.Leu321=) | |
18 | g.31536275G>T | CA503600705 | DSG2 | c.1497G>T (p.Leu499=) c.963G>T (p.Leu321=) | |
18 | g.31536276A>C | CA402141482 | DSG2 | c.1498A>C (p.Ile500Leu) c.964A>C (p.Ile322Leu) | |
18 | g.31536276A>G | CA402141483 | DSG2 | c.1498A>G (p.Ile500Val) c.964A>G (p.Ile322Val) | |
18 | g.31536276A>T | CA402141485 | DSG2 | c.1498A>T (p.Ile500Leu) c.964A>T (p.Ile322Leu) | |
18 | g.31536277T>A | CA402141487 | DSG2 | c.1499T>A (p.Ile500Lys) c.965T>A (p.Ile322Lys) | |
18 | g.31536277T>C | CA402141489 | DSG2 | c.1499T>C (p.Ile500Thr) c.965T>C (p.Ile322Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536277T>G | CA042665 | DSG2 | c.1499T>G (p.Ile500Arg) c.965T>G (p.Ile322Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536277T= | CA2293861950 | DSG2 | c.1499T= (p.Ile500=) c.965T= (p.Ile322=) | |
18 | g.31536278A>C | CA503600707 | DSG2 | c.1500A>C (p.Ile500=) c.966A>C (p.Ile322=) | |
18 | g.31536278A>G | CA402141491 | DSG2 | c.1500A>G (p.Ile500Met) c.966A>G (p.Ile322Met) | |
18 | g.31536278A>T | CA503600708 | DSG2 | c.1500A>T (p.Ile500=) c.966A>T (p.Ile322=) | |
18 | g.31536279G>A | CA402141494 | DSG2 | c.1501G>A (p.Glu501Lys) c.967G>A (p.Glu323Lys) | dbSNP gnomAD v4 |
18 | g.31536279G>C | CA402141497 | DSG2 | c.1501G>C (p.Glu501Gln) c.967G>C (p.Glu323Gln) | ClinVar dbSNP |
18 | g.31536279G= | CA2293861951 | DSG2 | c.1501G= (p.Glu501=) c.967G= (p.Glu323=) | |
18 | g.31536279G>T | CA402141498 | DSG2 | c.1501G>T (p.Glu501Ter) c.967G>T (p.Glu323Ter) | |
18 | g.31536280A>C | CA402141501 | DSG2 | c.1502A>C (p.Glu501Ala) c.968A>C (p.Glu323Ala) | |
18 | g.31536280A>G | CA402141503 | DSG2 | c.1502A>G (p.Glu501Gly) c.968A>G (p.Glu323Gly) | gnomAD v4 |
18 | g.31536280A>T | CA402141504 | DSG2 | c.1502A>T (p.Glu501Val) c.968A>T (p.Glu323Val) | |
18 | g.31536281G>A | CA503600709 | DSG2 | c.1503G>A (p.Glu501=) c.969G>A (p.Glu323=) | gnomAD v4 |
18 | g.31536281G>C | CA402141507 | DSG2 | c.1503G>C (p.Glu501Asp) c.969G>C (p.Glu323Asp) | |
18 | g.31536281G= | CA2293861952 | DSG2 | c.1503G= (p.Glu501=) c.969G= (p.Glu323=) | |
18 | g.31536281G>T | CA402141509 | DSG2 | c.1503G>T (p.Glu501Asp) c.969G>T (p.Glu323Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536282C>A | CA402141512 | DSG2 | c.1504C>A (p.Pro502Thr) c.970C>A (p.Pro324Thr) | |
18 | g.31536282C= | CA2293861953 | DSG2 | c.1504C= (p.Pro502=) c.970C= (p.Pro324=) | |
18 | g.31536282C>G | CA402141515 | DSG2 | c.1504C>G (p.Pro502Ala) c.970C>G (p.Pro324Ala) | |
18 | g.31536282C>T | CA042687 | DSG2 | c.1504C>T (p.Pro502Ser) c.970C>T (p.Pro324Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536283C>A | CA402141518 | DSG2 | c.1505C>A (p.Pro502His) c.971C>A (p.Pro324His) | |
18 | g.31536283C>G | CA402141520 | DSG2 | c.1505C>G (p.Pro502Arg) c.971C>G (p.Pro324Arg) | |
18 | g.31536283C>T | CA402141519 | DSG2 | c.1505C>T (p.Pro502Leu) c.971C>T (p.Pro324Leu) | |
18 | g.31536284T>A | CA503600710 | DSG2 | c.1506T>A (p.Pro502=) c.972T>A (p.Pro324=) | |
18 | g.31536284T>C | CA503600711 | DSG2 | c.1506T>C (p.Pro502=) c.972T>C (p.Pro324=) |