Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7579853C>A | CA448714546 | DSP | c.3663C>A (p.Ile1221=) c.3582+81C>A (n.3582+81C>A) | |
6 | g.7579853C>G | CA362684574 | DSP | c.3663C>G (p.Ile1221Met) c.3582+81C>G (n.3582+81C>G) | |
6 | g.7579853C>T | CA448714547 | DSP | c.3663C>T (p.Ile1221=) c.3582+81C>T (n.3582+81C>T) | ClinVar dbSNP |
6 | g.7579854A= | CA1608615002 | DSP | c.3664A= (p.Lys1222=) c.3582+82A= (n.3582+82A=) | |
6 | g.7579854A>C | CA362684575 | DSP | c.3664A>C (p.Lys1222Gln) c.3582+82A>C (n.3582+82A>C) | dbSNP |
6 | g.7579854A>G | CA362684577 | DSP | c.3664A>G (p.Lys1222Glu) c.3582+82A>G (n.3582+82A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579854A>T | CA362684576 | DSP | c.3664A>T (p.Lys1222Ter) c.3582+82A>T (n.3582+82A>T) | |
6 | g.7579855A>C | CA362684578 | DSP | c.3665A>C (p.Lys1222Thr) c.3582+83A>C (n.3582+83A>C) | |
6 | g.7579855A>G | CA362684579 | DSP | c.3665A>G (p.Lys1222Arg) c.3582+83A>G (n.3582+83A>G) | |
6 | g.7579855A>T | CA362684580 | DSP | c.3665A>T (p.Lys1222Met) c.3582+83A>T (n.3582+83A>T) | |
6 | g.7579856G>A | CA448714550 | DSP | c.3666G>A (p.Lys1222=) c.3582+84G>A (n.3582+84G>A) | |
6 | g.7579856G>C | CA362684581 | DSP | c.3666G>C (p.Lys1222Asn) c.3582+84G>C (n.3582+84G>C) | |
6 | g.7579856G>T | CA362684582 | DSP | c.3666G>T (p.Lys1222Asn) c.3582+84G>T (n.3582+84G>T) | |
6 | g.7579857G>A | CA362684583 | DSP | c.3667G>A (p.Glu1223Lys) c.3582+85G>A (n.3582+85G>A) | ClinVar |
6 | g.7579857G>C | CA362684584 | DSP | c.3667G>C (p.Glu1223Gln) c.3582+85G>C (n.3582+85G>C) | |
6 | g.7579857G>T | CA362684585 | DSP | c.3667G>T (p.Glu1223Ter) c.3582+85G>T (n.3582+85G>T) | |
6 | g.7579858A>C | CA362684586 | DSP | c.3668A>C (p.Glu1223Ala) c.3582+86A>C (n.3582+86A>C) | |
6 | g.7579858A>G | CA362684587 | DSP | c.3668A>G (p.Glu1223Gly) c.3582+86A>G (n.3582+86A>G) | |
6 | g.7579858A>T | CA362684588 | DSP | c.3668A>T (p.Glu1223Val) c.3582+86A>T (n.3582+86A>T) | |
6 | g.7579859G>A | CA448714553 | DSP | c.3669G>A (p.Glu1223=) c.3582+87G>A (n.3582+87G>A) | |
6 | g.7579859G>C | CA362684590 | DSP | c.3669G>C (p.Glu1223Asp) c.3582+87G>C (n.3582+87G>C) | |
6 | g.7579859G= | CA1608615006 | DSP | c.3669G= (p.Glu1223=) c.3582+87G= (n.3582+87G=) | |
6 | g.7579859G>T | CA362684589 | DSP | c.3669G>T (p.Glu1223Asp) c.3582+87G>T (n.3582+87G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579860A>C | CA362684591 | DSP | c.3670A>C (p.Ile1224Leu) c.3582+88A>C (n.3582+88A>C) | |
6 | g.7579860A>G | CA362684593 | DSP | c.3670A>G (p.Ile1224Val) c.3582+88A>G (n.3582+88A>G) | |
6 | g.7579860A>T | CA362684592 | DSP | c.3670A>T (p.Ile1224Leu) c.3582+88A>T (n.3582+88A>T) | |
6 | g.7579861T>A | CA362684594 | DSP | c.3671T>A (p.Ile1224Lys) c.3582+89T>A (n.3582+89T>A) | |
6 | g.7579861T>C | CA362684595 | DSP | c.3671T>C (p.Ile1224Thr) c.3582+89T>C (n.3582+89T>C) | |
6 | g.7579861T>G | CA362684596 | DSP | c.3671T>G (p.Ile1224Arg) c.3582+89T>G (n.3582+89T>G) | |
6 | g.7579862A>C | CA448714555 | DSP | c.3672A>C (p.Ile1224=) c.3582+90A>C (n.3582+90A>C) | |
6 | g.7579862A>G | CA362684597 | DSP | c.3672A>G (p.Ile1224Met) c.3582+90A>G (n.3582+90A>G) | |
6 | g.7579862A>T | CA448714557 | DSP | c.3672A>T (p.Ile1224=) c.3582+90A>T (n.3582+90A>T) | |
6 | g.7579863T>A | CA362684598 | DSP | c.3673T>A (p.Ser1225Thr) c.3582+91T>A (n.3582+91T>A) | |
6 | g.7579863T>C | CA362684599 | DSP | c.3673T>C (p.Ser1225Pro) c.3582+91T>C (n.3582+91T>C) | dbSNP |
6 | g.7579863T>G | CA362684600 | DSP | c.3673T>G (p.Ser1225Ala) c.3582+91T>G (n.3582+91T>G) | |
6 | g.7579863T= | CA1608615011 | DSP | c.3673T= (p.Ser1225=) c.3582+91T= (n.3582+91T=) | |
6 | g.7579864C>A | CA362684601 | DSP | c.3674C>A (p.Ser1225Tyr) c.3582+92C>A (n.3582+92C>A) | dbSNP gnomAD v4 |
6 | g.7579864C= | CA1608615015 | DSP | c.3674C= (p.Ser1225=) c.3582+92C= (n.3582+92C=) | |
6 | g.7579864C>G | CA362684602 | DSP | c.3674C>G (p.Ser1225Cys) c.3582+92C>G (n.3582+92C>G) | |
6 | g.7579864C>T | CA362684603 | DSP | c.3674C>T (p.Ser1225Phe) c.3582+92C>T (n.3582+92C>T) | dbSNP gnomAD v4 |
6 | g.7579865C>A | CA448714560 | DSP | c.3675C>A (p.Ser1225=) c.3582+93C>A (n.3582+93C>A) | |
6 | g.7579865C>G | CA448714561 | DSP | c.3675C>G (p.Ser1225=) c.3582+93C>G (n.3582+93C>G) | COSMIC |
6 | g.7579865C>T | CA448714562 | DSP | c.3675C>T (p.Ser1225=) c.3582+93C>T (n.3582+93C>T) | gnomAD v4 |
6 | g.7579866A= | CA1608615022 | DSP | c.3676A= (p.Met1226=) c.3582+94A= (n.3582+94A=) | |
6 | g.7579866A>C | CA362684604 | DSP | c.3676A>C (p.Met1226Leu) c.3582+94A>C (n.3582+94A>C) | |
6 | g.7579866A>G | CA038699 | DSP | c.3676A>G (p.Met1226Val) c.3582+94A>G (n.3582+94A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579866A>T | CA362684605 | DSP | c.3676A>T (p.Met1226Leu) c.3582+94A>T (n.3582+94A>T) | |
6 | g.7579867T>A | CA362684606 | DSP | c.3677T>A (p.Met1226Lys) c.3582+95T>A (n.3582+95T>A) | dbSNP gnomAD v2 |
6 | g.7579867T>C | CA362684608 | DSP | c.3677T>C (p.Met1226Thr) c.3582+95T>C (n.3582+95T>C) | gnomAD v4 |
6 | g.7579867T>G | CA362684607 | DSP | c.3677T>G (p.Met1226Arg) c.3582+95T>G (n.3582+95T>G) | gnomAD v4 |