Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202369396_202377723del | CA1139657640 | ClinVar | ||
2 | g.202373247_202381017del | CA915942366 | ClinVar | ||
2 | g.202377495del | CA645293857 | BMPR2 | c.21del (p.Trp9GlyfsTer?) | ClinVar dbSNP |
2 | g.202377494_202377503delinsGGCCCTGGCG | CA1321474674 | BMPR2 | c.20_29delinsGGCCCTGGCG (p.Arg7=) | |
2 | g.202377495G>A | CA64522360 | BMPR2 | c.21G>A (p.Arg7=) | dbSNP gnomAD v4 |
2 | g.202377495G>C | CA430892954 | BMPR2 | c.21G>C (p.Arg7=) | |
2 | g.202377495G= | CA1321474676 | BMPR2 | c.21G= (p.Arg7=) | |
2 | g.202377495G>T | CA430892956 | BMPR2 | c.21G>T (p.Arg7=) | |
2 | g.202377495_202377503delinsA | CA645293858 | BMPR2 | c.21_29delinsA (p.Pro8GlyfsTer27) | ClinVar dbSNP |
2 | g.202377496C>A | CA350396586 | BMPR2 | c.22C>A (p.Pro8Thr) | gnomAD v4 |
2 | g.202377496C>G | CA350396587 | BMPR2 | c.22C>G (p.Pro8Ala) | |
2 | g.202377496C>T | CA350396589 | BMPR2 | c.22C>T (p.Pro8Ser) | gnomAD v4 |
2 | g.202377497C>A | CA350396591 | BMPR2 | c.23C>A (p.Pro8His) | |
2 | g.202377497C>G | CA350396593 | BMPR2 | c.23C>G (p.Pro8Arg) | |
2 | g.202377497C>T | CA350396594 | BMPR2 | c.23C>T (p.Pro8Leu) | gnomAD v4 COSMIC |
2 | g.202377497_202377513delinsCCTGGCGGGTGCCCTGG | CA1321474677 | BMPR2 | c.23_39delinsCCTGGCGGGTGCCCTGG (p.Pro8=) | |
2 | g.202377498C>A | CA430892967 | BMPR2 | c.24C>A (p.Pro8=) | |
2 | g.202377498C= | CA1321474678 | BMPR2 | c.24C= (p.Pro8=) | |
2 | g.202377498C>G | CA430892968 | BMPR2 | c.24C>G (p.Pro8=) | |
2 | g.202377498C>T | CA430892970 | BMPR2 | c.24C>T (p.Pro8=) | dbSNP |
2 | g.202377500_202377515del | CA915942368 | BMPR2 | c.26_41del (p.Trp9TyrfsTer?) | ClinVar dbSNP |
2 | g.202377499T>A | CA350396597 | BMPR2 | c.25T>A (p.Trp9Arg) | |
2 | g.202377499T>C | CA350396600 | BMPR2 | c.25T>C (p.Trp9Arg) | |
2 | g.202377499T>G | CA350396599 | BMPR2 | c.25T>G (p.Trp9Gly) | |
2 | g.202377500G>A | CA350396602 | BMPR2 | c.26G>A (p.Trp9Ter) | |
2 | g.202377500G>C | CA350396604 | BMPR2 | c.26G>C (p.Trp9Ser) | |
2 | g.202377500G>T | CA350396606 | BMPR2 | c.26G>T (p.Trp9Leu) | |
2 | g.202377501del | CA2586970990 | BMPR2 | c.27del (p.Trp9CysfsTer?) | |
2 | g.202377501G>A | CA350396608 | BMPR2 | c.27G>A (p.Trp9Ter) | ClinVar dbSNP COSMIC |
2 | g.202377501G>C | CA350396610 | BMPR2 | c.27G>C (p.Trp9Cys) | |
2 | g.202377501G= | CA1321474679 | BMPR2 | c.27G= (p.Trp9=) | |
2 | g.202377501G>T | CA350396611 | BMPR2 | c.27G>T (p.Trp9Cys) | dbSNP |
2 | g.202377502C>A | CA430892989 | BMPR2 | c.28C>A (p.Arg10=) | |
2 | g.202377502C= | CA1321474680 | BMPR2 | c.28C= (p.Arg10=) | |
2 | g.202377502C>G | CA350396612 | BMPR2 | c.28C>G (p.Arg10Gly) | |
2 | g.202377502C>T | CA350396613 | BMPR2 | c.28C>T (p.Arg10Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377503G>A | CA2060998 | BMPR2 | c.29G>A (p.Arg10Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377503G>C | CA350396616 | BMPR2 | c.29G>C (p.Arg10Pro) | |
2 | g.202377503G= | CA1321474681 | BMPR2 | c.29G= (p.Arg10=) | |
2 | g.202377503G>T | CA350396618 | BMPR2 | c.29G>T (p.Arg10Leu) | |
2 | g.202377504G>A | CA430892995 | BMPR2 | c.30G>A (p.Arg10=) | |
2 | g.202377504G>C | CA430892996 | BMPR2 | c.30G>C (p.Arg10=) | |
2 | g.202377504G>T | CA430892998 | BMPR2 | c.30G>T (p.Arg10=) | |
2 | g.202377505G>A | CA350396621 | BMPR2 | c.31G>A (p.Val11Met) | |
2 | g.202377505G>C | CA350396623 | BMPR2 | c.31G>C (p.Val11Leu) | gnomAD v4 |
2 | g.202377505G= | CA1321474682 | BMPR2 | c.31G= (p.Val11=) | |
2 | g.202377505G>T | CA2060999 | BMPR2 | c.31G>T (p.Val11Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.202377506T>A | CA350396626 | BMPR2 | c.32T>A (p.Val11Glu) | |
2 | g.202377506T>C | CA350396625 | BMPR2 | c.32T>C (p.Val11Ala) | |
2 | g.202377506T>G | CA350396628 | BMPR2 | c.32T>G (p.Val11Gly) | dbSNP |