| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.87811441_87811449del | CA2671363054 | IBSP | c.485_493del (p.Asn162_Glu164del) | gnomAD v4 |
| 4 | g.87811440A>C | CA357620620 | IBSP | c.484A>C (p.Asn162His) | COSMIC |
| 4 | g.87811440A>G | CA357620622 | IBSP | c.484A>G (p.Asn162Asp) | |
| 4 | g.87811440A>T | CA357620624 | IBSP | c.484A>T (p.Asn162Tyr) | |
| 4 | g.87811441A>C | CA357620625 | IBSP | c.485A>C (p.Asn162Thr) | |
| 4 | g.87811441A>G | CA357620626 | IBSP | c.485A>G (p.Asn162Ser) | |
| 4 | g.87811441A>T | CA357620628 | IBSP | c.485A>T (p.Asn162Ile) | |
| 4 | g.87811442C>A | CA357620630 | IBSP | c.486C>A (p.Asn162Lys) | |
| 4 | g.87811442C= | CA1474474587 | IBSP | c.486C= (p.Asn162=) | |
| 4 | g.87811442C>G | CA3002398 | IBSP | c.486C>G (p.Asn162Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87811442C>T | CA440295400 | IBSP | c.486C>T (p.Asn162=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87811447_87811455del | CA2578140102 | IBSP | c.491_499del (p.Glu164_Glu166del) | |
| 4 | g.87811443G>A | CA3002399 | IBSP | c.487G>A (p.Glu163Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87811443G>C | CA357620634 | IBSP | c.487G>C (p.Glu163Gln) | |
| 4 | g.87811443G= | CA1474474588 | IBSP | c.487G= (p.Glu163=) | |
| 4 | g.87811443G>T | CA357620632 | IBSP | c.487G>T (p.Glu163Ter) | COSMIC |
| 4 | g.87811444A>C | CA357620638 | IBSP | c.488A>C (p.Glu163Ala) | |
| 4 | g.87811444A>G | CA357620639 | IBSP | c.488A>G (p.Glu163Gly) | |
| 4 | g.87811444A>T | CA357620640 | IBSP | c.488A>T (p.Glu163Val) | |
| 4 | g.87811445A>C | CA357620642 | IBSP | c.489A>C (p.Glu163Asp) | |
| 4 | g.87811445A>G | CA440295401 | IBSP | c.489A>G (p.Glu163=) | |
| 4 | g.87811445A>T | CA357620643 | IBSP | c.489A>T (p.Glu163Asp) | |
| 4 | g.87811446G>A | CA357620644 | IBSP | c.490G>A (p.Glu164Lys) | gnomAD v4 |
| 4 | g.87811446G>C | CA357620646 | IBSP | c.490G>C (p.Glu164Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87811446G= | CA1474474589 | IBSP | c.490G= (p.Glu164=) | |
| 4 | g.87811446G>T | CA357620647 | IBSP | c.490G>T (p.Glu164Ter) | |
| 4 | g.87811447A>C | CA357620649 | IBSP | c.491A>C (p.Glu164Ala) | |
| 4 | g.87811447A>G | CA357620650 | IBSP | c.491A>G (p.Glu164Gly) | |
| 4 | g.87811447A>T | CA357620652 | IBSP | c.491A>T (p.Glu164Val) | |
| 4 | g.87811448A= | CA1474474590 | IBSP | c.492A= (p.Glu164=) | |
| 4 | g.87811448A>C | CA3002400 | IBSP | c.492A>C (p.Glu164Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87811448A>G | CA440295696 | IBSP | c.492A>G (p.Glu164=) | |
| 4 | g.87811448A>T | CA357620654 | IBSP | c.492A>T (p.Glu164Asp) | COSMIC |
| 4 | g.87811449A>C | CA357620656 | IBSP | c.493A>C (p.Ser165Arg) | |
| 4 | g.87811449A>G | CA357620657 | IBSP | c.493A>G (p.Ser165Gly) | |
| 4 | g.87811449A>T | CA357620655 | IBSP | c.493A>T (p.Ser165Cys) | |
| 4 | g.87811450G>A | CA357620659 | IBSP | c.494G>A (p.Ser165Asn) | gnomAD v4 |
| 4 | g.87811450G>C | CA357620660 | IBSP | c.494G>C (p.Ser165Thr) | |
| 4 | g.87811450G>T | CA357620662 | IBSP | c.494G>T (p.Ser165Ile) | |
| 4 | g.87811451C>A | CA3002401 | IBSP | c.495C>A (p.Ser165Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87811451C= | CA1474474591 | IBSP | c.495C= (p.Ser165=) | |
| 4 | g.87811451C>G | CA357620665 | IBSP | c.495C>G (p.Ser165Arg) | |
| 4 | g.87811451C>T | CA100855675 | IBSP | c.495C>T (p.Ser165=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87811452G>A | CA100855693 | IBSP | c.496G>A (p.Glu166Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87811452G>C | CA357620667 | IBSP | c.496G>C (p.Glu166Gln) | |
| 4 | g.87811452G= | CA1474474592 | IBSP | c.496G= (p.Glu166=) | |
| 4 | g.87811452G>T | CA357620669 | IBSP | c.496G>T (p.Glu166Ter) | dbSNP |
| 4 | g.87811453A>C | CA357620671 | IBSP | c.497A>C (p.Glu166Ala) | |
| 4 | g.87811453A>G | CA357620672 | IBSP | c.497A>G (p.Glu166Gly) | |
| 4 | g.87811453A>T | CA357620674 | IBSP | c.497A>T (p.Glu166Val) |