Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202547085_202553904del | CA915941655 | BMPR2 | c.1413+4638_1586+1016del c.1344+4638_1517+1016del | ClinVar |
2 | g.202552789G>A | CA350344634 | BMPR2 | c.1487G>A (p.Cys496Tyr) c.1418G>A (p.Cys473Tyr) | ClinVar dbSNP |
2 | g.202552789G>C | CA350344635 | BMPR2 | c.1487G>C (p.Cys496Ser) c.1418G>C (p.Cys473Ser) | |
2 | g.202552789G= | CA1321556604 | BMPR2 | c.1487G= (p.Cys496=) c.1418G= (p.Cys473=) | |
2 | g.202552789G>T | CA350344632 | BMPR2 | c.1487G>T (p.Cys496Phe) c.1418G>T (p.Cys473Phe) | |
2 | g.202552789_202552807delinsGTGCTGAGGAAAGGATGGC | CA1321556605 | BMPR2 | c.1487_1505delinsGTGCTGAGGAAAGGATGGC (p.Cys496=) c.1418_1436delinsGTGCTGAGGAAAGGATGGC (p.Cys473=) | |
2 | g.202552790T>A | CA350344637 | BMPR2 | c.1488T>A (p.Cys496Ter) c.1419T>A (p.Cys473Ter) | |
2 | g.202552790T>C | CA430859844 | BMPR2 | c.1488T>C (p.Cys496=) c.1419T>C (p.Cys473=) | |
2 | g.202552790T>G | CA350344638 | BMPR2 | c.1488T>G (p.Cys496Trp) c.1419T>G (p.Cys473Trp) | ClinVar dbSNP |
2 | g.202552792_202552809del | CA915941656 | BMPR2 | c.1490_1507del (p.Ala497_Ala502del) c.1421_1438del (p.Ala474_Ala479del) | ClinVar dbSNP |
2 | g.202552791G>A | CA350344640 | BMPR2 | c.1489G>A (p.Ala497Thr) c.1420G>A (p.Ala474Thr) | |
2 | g.202552791G>C | CA350344642 | BMPR2 | c.1489G>C (p.Ala497Pro) c.1420G>C (p.Ala474Pro) | |
2 | g.202552791G>T | CA350344643 | BMPR2 | c.1489G>T (p.Ala497Ser) c.1420G>T (p.Ala474Ser) | |
2 | g.202552792C>A | CA350344646 | BMPR2 | c.1490C>A (p.Ala497Asp) c.1421C>A (p.Ala474Asp) | |
2 | g.202552792C>G | CA350344647 | BMPR2 | c.1490C>G (p.Ala497Gly) c.1421C>G (p.Ala474Gly) | |
2 | g.202552792C>T | CA350344648 | BMPR2 | c.1490C>T (p.Ala497Val) c.1421C>T (p.Ala474Val) | |
2 | g.202552793T>A | CA430859857 | BMPR2 | c.1491T>A (p.Ala497=) c.1422T>A (p.Ala474=) | |
2 | g.202552793T>C | CA430859860 | BMPR2 | c.1491T>C (p.Ala497=) c.1422T>C (p.Ala474=) | |
2 | g.202552793T>G | CA430859858 | BMPR2 | c.1491T>G (p.Ala497=) c.1422T>G (p.Ala474=) | |
2 | g.202552794G>A | CA350344650 | BMPR2 | c.1492G>A (p.Glu498Lys) c.1423G>A (p.Glu475Lys) | ClinVar dbSNP |
2 | g.202552794G>C | CA2061381 | BMPR2 | c.1492G>C (p.Glu498Gln) c.1423G>C (p.Glu475Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552794G= | CA1321556610 | BMPR2 | c.1492G= (p.Glu498=) c.1423G= (p.Glu475=) | |
2 | g.202552794G>T | CA350344651 | BMPR2 | c.1492G>T (p.Glu498Ter) c.1423G>T (p.Glu475Ter) | |
2 | g.202552795A>C | CA350344653 | BMPR2 | c.1493A>C (p.Glu498Ala) c.1424A>C (p.Glu475Ala) | |
2 | g.202552795A>G | CA350344655 | BMPR2 | c.1493A>G (p.Glu498Gly) c.1424A>G (p.Glu475Gly) | |
2 | g.202552795A>T | CA350344657 | BMPR2 | c.1493A>T (p.Glu498Val) c.1424A>T (p.Glu475Val) | |
2 | g.202552796G>A | CA430859872 | BMPR2 | c.1494G>A (p.Glu498=) c.1425G>A (p.Glu475=) | |
2 | g.202552796G>C | CA350344659 | BMPR2 | c.1494G>C (p.Glu498Asp) c.1425G>C (p.Glu475Asp) | |
2 | g.202552796G>T | CA350344661 | BMPR2 | c.1494G>T (p.Glu498Asp) c.1425G>T (p.Glu475Asp) | |
2 | g.202552797G>A | CA350344663 | BMPR2 | c.1495G>A (p.Glu499Lys) c.1426G>A (p.Glu476Lys) | |
2 | g.202552797G>C | CA350344665 | BMPR2 | c.1495G>C (p.Glu499Gln) c.1426G>C (p.Glu476Gln) | |
2 | g.202552797G>T | CA350344667 | BMPR2 | c.1495G>T (p.Glu499Ter) c.1426G>T (p.Glu476Ter) | |
2 | g.202552798A>C | CA350344669 | BMPR2 | c.1496A>C (p.Glu499Ala) c.1427A>C (p.Glu476Ala) | |
2 | g.202552798A>G | CA350344671 | BMPR2 | c.1496A>G (p.Glu499Gly) c.1427A>G (p.Glu476Gly) | |
2 | g.202552798A>T | CA350344673 | BMPR2 | c.1496A>T (p.Glu499Val) c.1427A>T (p.Glu476Val) | |
2 | g.202552799A>C | CA350344675 | BMPR2 | c.1497A>C (p.Glu499Asp) c.1428A>C (p.Glu476Asp) | |
2 | g.202552799A>G | CA430859888 | BMPR2 | c.1497A>G (p.Glu499=) c.1428A>G (p.Glu476=) | ClinVar dbSNP gnomAD v4 |
2 | g.202552799A>T | CA350344677 | BMPR2 | c.1497A>T (p.Glu499Asp) c.1428A>T (p.Glu476Asp) | |
2 | g.202552800A>C | CA430859892 | BMPR2 | c.1498A>C (p.Arg500=) c.1429A>C (p.Arg477=) | |
2 | g.202552800A>G | CA350344679 | BMPR2 | c.1498A>G (p.Arg500Gly) c.1429A>G (p.Arg477Gly) | |
2 | g.202552800A>T | CA350344680 | BMPR2 | c.1498A>T (p.Arg500Trp) c.1429A>T (p.Arg477Trp) | |
2 | g.202552801G>A | CA350344682 | BMPR2 | c.1499G>A (p.Arg500Lys) c.1430G>A (p.Arg477Lys) | |
2 | g.202552801G>C | CA350344683 | BMPR2 | c.1499G>C (p.Arg500Thr) c.1430G>C (p.Arg477Thr) | |
2 | g.202552801G>T | CA350344685 | BMPR2 | c.1499G>T (p.Arg500Met) c.1430G>T (p.Arg477Met) | |
2 | g.202552802G>A | CA430859909 | BMPR2 | c.1500G>A (p.Arg500=) c.1431G>A (p.Arg477=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552802G>C | CA350344687 | BMPR2 | c.1500G>C (p.Arg500Ser) c.1431G>C (p.Arg477Ser) | |
2 | g.202552802G= | CA1321556615 | BMPR2 | c.1500G= (p.Arg500=) c.1431G= (p.Arg477=) | |
2 | g.202552802G>T | CA350344688 | BMPR2 | c.1500G>T (p.Arg500Ser) c.1431G>T (p.Arg477Ser) | |
2 | g.202552803A>C | CA350344691 | BMPR2 | c.1501A>C (p.Met501Leu) c.1432A>C (p.Met478Leu) | |
2 | g.202552803A>G | CA350344692 | BMPR2 | c.1501A>G (p.Met501Val) c.1432A>G (p.Met478Val) |