| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.46853764_46853765delinsTG | CA2427731430 | RP2 | c.391_392delinsTG (p.Cys131=) | |
| X | g.46853765del | CA16621891 | RP2 | c.392del (p.Cys131LeufsTer25) | ClinVar dbSNP |
| X | g.46853765G>A | CA413039590 | RP2 | c.392G>A (p.Cys131Tyr) | ClinVar COSMIC |
| X | g.46853765G>C | CA413039592 | RP2 | c.392G>C (p.Cys131Ser) | |
| X | g.46853765G>T | CA413039594 | RP2 | c.392G>T (p.Cys131Phe) | |
| X | g.46853766T>A | CA413039596 | RP2 | c.393T>A (p.Cys131Ter) | |
| X | g.46853766T>C | CA516371000 | RP2 | c.393T>C (p.Cys131=) | |
| X | g.46853766T>G | CA413039599 | RP2 | c.393T>G (p.Cys131Trp) | |
| X | g.46853767G>A | CA413039602 | RP2 | c.394G>A (p.Ala132Thr) | dbSNP |
| X | g.46853767G>C | CA413039606 | RP2 | c.394G>C (p.Ala132Pro) | |
| X | g.46853767G= | CA2427731431 | RP2 | c.394G= (p.Ala132=) | |
| X | g.46853767G>T | CA413039604 | RP2 | c.394G>T (p.Ala132Ser) | |
| X | g.46853767_46853768del | CA2739273472 | RP2 | c.394_395del (p.Ala132HisfsTer6) | ClinVar |
| X | g.46853768C>A | CA413039609 | RP2 | c.395C>A (p.Ala132Asp) | |
| X | g.46853768C>G | CA413039610 | RP2 | c.395C>G (p.Ala132Gly) | |
| X | g.46853768C>T | CA413039613 | RP2 | c.395C>T (p.Ala132Val) | |
| X | g.46853769_46853793del | CA2695233386 | RP2 | c.396_420del (p.Thr133GlnfsTer15) | |
| X | g.46853769C>A | CA516371011 | RP2 | c.396C>A (p.Ala132=) | |
| X | g.46853769C= | CA2427731432 | RP2 | c.396C= (p.Ala132=) | |
| X | g.46853769C>G | CA329691493 | RP2 | c.396C>G (p.Ala132=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853769C>T | CA516371015 | RP2 | c.396C>T (p.Ala132=) | |
| X | g.46853770A>C | CA413039617 | RP2 | c.397A>C (p.Thr133Pro) | |
| X | g.46853770A>G | CA413039619 | RP2 | c.397A>G (p.Thr133Ala) | |
| X | g.46853770A>T | CA413039621 | RP2 | c.397A>T (p.Thr133Ser) | |
| X | g.46853771C>A | CA413039623 | RP2 | c.398C>A (p.Thr133Asn) | |
| X | g.46853771C>G | CA413039625 | RP2 | c.398C>G (p.Thr133Ser) | |
| X | g.46853771C>T | CA413039627 | RP2 | c.398C>T (p.Thr133Ile) | COSMIC |
| X | g.46853772T>A | CA516371020 | RP2 | c.399T>A (p.Thr133=) | |
| X | g.46853772T>C | CA516371021 | RP2 | c.399T>C (p.Thr133=) | |
| X | g.46853772T>G | CA516371022 | RP2 | c.399T>G (p.Thr133=) | |
| X | g.46853773C>A | CA413039630 | RP2 | c.400C>A (p.Gln134Lys) | |
| X | g.46853773C= | CA2427731433 | RP2 | c.400C= (p.Gln134=) | |
| X | g.46853773C>G | CA413039632 | RP2 | c.400C>G (p.Gln134Glu) | |
| X | g.46853773C>T | CA413039634 | RP2 | c.400C>T (p.Gln134Ter) | ClinVar dbSNP |
| X | g.46853774A= | CA2427731434 | RP2 | c.401A= (p.Gln134=) | |
| X | g.46853774A>C | CA413039641 | RP2 | c.401A>C (p.Gln134Pro) | |
| X | g.46853774A>G | CA413039637 | RP2 | c.401A>G (p.Gln134Arg) | ClinVar dbSNP |
| X | g.46853774A>T | CA413039639 | RP2 | c.401A>T (p.Gln134Leu) | |
| X | g.46853775A>C | CA413039644 | RP2 | c.402A>C (p.Gln134His) | |
| X | g.46853775A>G | CA516371040 | RP2 | c.402A>G (p.Gln134=) | |
| X | g.46853775A>T | CA413039646 | RP2 | c.402A>T (p.Gln134His) | |
| X | g.46853776C>A | CA413039650 | RP2 | c.403C>A (p.Pro135Thr) | |
| X | g.46853776C>G | CA413039652 | RP2 | c.403C>G (p.Pro135Ala) | |
| X | g.46853776C>T | CA413039654 | RP2 | c.403C>T (p.Pro135Ser) | |
| X | g.46853777C>A | CA413039657 | RP2 | c.404C>A (p.Pro135His) | |
| X | g.46853777C>G | CA413039659 | RP2 | c.404C>G (p.Pro135Arg) | |
| X | g.46853777C>T | CA413039662 | RP2 | c.404C>T (p.Pro135Leu) | |
| X | g.46853778C>A | CA516371046 | RP2 | c.405C>A (p.Pro135=) | |
| X | g.46853778C>G | CA516371050 | RP2 | c.405C>G (p.Pro135=) | |
| X | g.46853778C>T | CA516371054 | RP2 | c.405C>T (p.Pro135=) |