| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47448824G>A | CA474220361 | RAPSN | c.141C>T (p.Gly47=) | gnomAD v4 |
| 11 | g.47448824G>C | CA474220363 | RAPSN | c.141C>G (p.Gly47=) | gnomAD v4 |
| 11 | g.47448824G>T | CA474220362 | RAPSN | c.141C>A (p.Gly47=) | |
| 11 | g.47448825C>A | CA380336623 | RAPSN | c.140G>T (p.Gly47Val) | |
| 11 | g.47448825C= | CA1969379451 | RAPSN | c.140G= (p.Gly47=) | |
| 11 | g.47448825C>G | CA380336624 | RAPSN | c.140G>C (p.Gly47Ala) | |
| 11 | g.47448825C>T | CA5976829 | RAPSN | c.140G>A (p.Gly47Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448826C>A | CA380336632 | RAPSN | c.139G>T (p.Gly47Cys) | |
| 11 | g.47448826C>G | CA380336634 | RAPSN | c.139G>C (p.Gly47Arg) | |
| 11 | g.47448826C>T | CA380336637 | RAPSN | c.139G>A (p.Gly47Ser) | gnomAD v4 |
| 11 | g.47448827C>A | CA474220364 | RAPSN | c.138G>T (p.Leu46=) | |
| 11 | g.47448827C>G | CA474220365 | RAPSN | c.138G>C (p.Leu46=) | |
| 11 | g.47448827C>T | CA474220366 | RAPSN | c.138G>A (p.Leu46=) | COSMIC |
| 11 | g.47448827_47448828delinsCA | CA1969379457 | RAPSN | c.137_138delinsTG (p.Leu46=) | |
| 11 | g.47448828del | CA5976830 | RAPSN | c.137del (p.Leu46ArgfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47448828A>C | CA380336649 | RAPSN | c.137T>G (p.Leu46Arg) | |
| 11 | g.47448828A>G | CA380336646 | RAPSN | c.137T>C (p.Leu46Pro) | |
| 11 | g.47448828A>T | CA380336642 | RAPSN | c.137T>A (p.Leu46Gln) | |
| 11 | g.47448829G>A | CA474220370 | RAPSN | c.136C>T (p.Leu46=) | |
| 11 | g.47448829G>C | CA380336651 | RAPSN | c.136C>G (p.Leu46Val) | |
| 11 | g.47448829G>T | CA380336653 | RAPSN | c.136C>A (p.Leu46Met) | |
| 11 | g.47448830C>A | CA474220371 | RAPSN | c.135G>T (p.Val45=) | |
| 11 | g.47448830C>G | CA474220372 | RAPSN | c.135G>C (p.Val45=) | COSMIC |
| 11 | g.47448830C>T | CA474220373 | RAPSN | c.135G>A (p.Val45=) | |
| 11 | g.47448831A>C | CA380336656 | RAPSN | c.134T>G (p.Val45Gly) | |
| 11 | g.47448831A>G | CA380336660 | RAPSN | c.134T>C (p.Val45Ala) | |
| 11 | g.47448831A>T | CA380336665 | RAPSN | c.134T>A (p.Val45Glu) | |
| 11 | g.47448832C>A | CA221723367 | RAPSN | c.133G>T (p.Val45Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47448832C= | CA1969379461 | RAPSN | c.133G= (p.Val45=) | |
| 11 | g.47448832C>G | CA221723373 | RAPSN | c.133G>C (p.Val45Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448832C>T | CA119257 | RAPSN | c.133G>A (p.Val45Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448833G>A | CA5976831 | RAPSN | c.132C>T (p.Arg44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448833G>C | CA474220377 | RAPSN | c.132C>G (p.Arg44=) | |
| 11 | g.47448833G= | CA1969379466 | RAPSN | c.132C= (p.Arg44=) | |
| 11 | g.47448833G>T | CA474220376 | RAPSN | c.132C>A (p.Arg44=) | |
| 11 | g.47448834C>A | CA380336668 | RAPSN | c.131G>T (p.Arg44Leu) | |
| 11 | g.47448834C= | CA1969379469 | RAPSN | c.131G= (p.Arg44=) | |
| 11 | g.47448834C>G | CA380336671 | RAPSN | c.131G>C (p.Arg44Pro) | |
| 11 | g.47448834C>T | CA5976832 | RAPSN | c.131G>A (p.Arg44His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448835G>A | CA5976833 | RAPSN | c.130C>T (p.Arg44Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448835G>C | CA380336685 | RAPSN | c.130C>G (p.Arg44Gly) | |
| 11 | g.47448835G= | CA1969379474 | RAPSN | c.130C= (p.Arg44=) | |
| 11 | g.47448835G>T | CA380336676 | RAPSN | c.130C>A (p.Arg44Ser) | |
| 11 | g.47448836del | CA2574817260 | RAPSN | c.130del (p.Arg44AlafsTer20) | gnomAD v4 |
| 11 | g.47448836G>A | CA474220378 | RAPSN | c.129C>T (p.Phe43=) | gnomAD v4 COSMIC |
| 11 | g.47448836G>C | CA380336688 | RAPSN | c.129C>G (p.Phe43Leu) | |
| 11 | g.47448836G>T | CA380336691 | RAPSN | c.129C>A (p.Phe43Leu) | |
| 11 | g.47448837A>C | CA380336693 | RAPSN | c.128T>G (p.Phe43Cys) | |
| 11 | g.47448837A>G | CA380336694 | RAPSN | c.128T>C (p.Phe43Ser) | |
| 11 | g.47448837A>T | CA380336696 | RAPSN | c.128T>A (p.Phe43Tyr) |