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.202552727_202552752delinsACTCAAGGAGACAATCGAAGACTGTT | CA1321556402 | BMPR2 | c.1425_1450delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser475=) c.1356_1381delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser452=) | |
2 | g.202552728_202552729delinsCT | CA1321556407 | BMPR2 | c.1426_1427delinsCT (p.Leu476=) c.1357_1358delinsCT (p.Leu453=) | |
2 | g.202552728_202552752del | CA320979 | BMPR2 | c.1426_1450del (p.Leu476GlyfsTer22) c.1357_1381del (p.Leu453GlyfsTer22) | ClinVar dbSNP |
2 | g.202552729del | CA645293981 | BMPR2 | c.1427del (p.Leu476ProfsTer30) c.1358del (p.Leu453ProfsTer30) | ClinVar dbSNP |
2 | g.202552729T>A | CA350344430 | BMPR2 | c.1427T>A (p.Leu476His) c.1358T>A (p.Leu453His) | |
2 | g.202552729T>C | CA350344431 | BMPR2 | c.1427T>C (p.Leu476Pro) c.1358T>C (p.Leu453Pro) | |
2 | g.202552729T>G | CA16604019 | BMPR2 | c.1427T>G (p.Leu476Arg) c.1358T>G (p.Leu453Arg) | ClinVar dbSNP |
2 | g.202552729T= | CA1321556415 | BMPR2 | c.1427T= (p.Leu476=) c.1358T= (p.Leu453=) | |
2 | g.202552730C>A | CA430859563 | BMPR2 | c.1428C>A (p.Leu476=) c.1359C>A (p.Leu453=) | |
2 | g.202552730C>G | CA430859565 | BMPR2 | c.1428C>G (p.Leu476=) c.1359C>G (p.Leu453=) | |
2 | g.202552730C>T | CA430859568 | BMPR2 | c.1428C>T (p.Leu476=) c.1359C>T (p.Leu453=) | |
2 | g.202552731A>C | CA350344432 | BMPR2 | c.1429A>C (p.Lys477Gln) c.1360A>C (p.Lys454Gln) | |
2 | g.202552731A>G | CA350344433 | BMPR2 | c.1429A>G (p.Lys477Glu) c.1360A>G (p.Lys454Glu) | ClinVar |
2 | g.202552731A>T | CA350344434 | BMPR2 | c.1429A>T (p.Lys477Ter) c.1360A>T (p.Lys454Ter) | |
2 | g.202552732A= | CA1321556422 | BMPR2 | c.1430A= (p.Lys477=) c.1361A= (p.Lys454=) | |
2 | g.202552732A>C | CA2061377 | BMPR2 | c.1430A>C (p.Lys477Thr) c.1361A>C (p.Lys454Thr) | dbSNP ExAC gnomAD v2 |
2 | g.202552732A>G | CA350344436 | BMPR2 | c.1430A>G (p.Lys477Arg) c.1361A>G (p.Lys454Arg) | dbSNP gnomAD v4 |
2 | g.202552732A>T | CA350344435 | BMPR2 | c.1430A>T (p.Lys477Met) c.1361A>T (p.Lys454Met) | |
2 | g.202552733G>A | CA430859581 | BMPR2 | c.1431G>A (p.Lys477=) c.1362G>A (p.Lys454=) | |
2 | g.202552733G>C | CA350344437 | BMPR2 | c.1431G>C (p.Lys477Asn) c.1362G>C (p.Lys454Asn) | |
2 | g.202552733G>T | CA350344438 | BMPR2 | c.1431G>T (p.Lys477Asn) c.1362G>T (p.Lys454Asn) | |
2 | g.202552734G>A | CA350344439 | BMPR2 | c.1432G>A (p.Glu478Lys) c.1363G>A (p.Glu455Lys) | |
2 | g.202552734G>C | CA350344440 | BMPR2 | c.1432G>C (p.Glu478Gln) c.1363G>C (p.Glu455Gln) | |
2 | g.202552734G= | CA1321556428 | BMPR2 | c.1432G= (p.Glu478=) c.1363G= (p.Glu455=) | |
2 | g.202552734G>T | CA350344441 | BMPR2 | c.1432G>T (p.Glu478Ter) c.1363G>T (p.Glu455Ter) | ClinVar dbSNP |
2 | g.202552735A>C | CA350344442 | BMPR2 | c.1433A>C (p.Glu478Ala) c.1364A>C (p.Glu455Ala) | |
2 | g.202552735A>G | CA350344443 | BMPR2 | c.1433A>G (p.Glu478Gly) c.1364A>G (p.Glu455Gly) | |
2 | g.202552735A>T | CA350344444 | BMPR2 | c.1433A>T (p.Glu478Val) c.1364A>T (p.Glu455Val) | |
2 | g.202552736G>A | CA430859591 | BMPR2 | c.1434G>A (p.Glu478=) c.1365G>A (p.Glu455=) | |
2 | g.202552736G>C | CA350344445 | BMPR2 | c.1434G>C (p.Glu478Asp) c.1365G>C (p.Glu455Asp) | |
2 | g.202552736G>T | CA350344446 | BMPR2 | c.1434G>T (p.Glu478Asp) c.1365G>T (p.Glu455Asp) | |
2 | g.202552737A= | CA1321556433 | BMPR2 | c.1435A= (p.Thr479=) c.1366A= (p.Thr456=) | |
2 | g.202552737A>C | CA350344447 | BMPR2 | c.1435A>C (p.Thr479Pro) c.1366A>C (p.Thr456Pro) | dbSNP |
2 | g.202552737A>G | CA350344448 | BMPR2 | c.1435A>G (p.Thr479Ala) c.1366A>G (p.Thr456Ala) | gnomAD v4 |
2 | g.202552737A>T | CA350344449 | BMPR2 | c.1435A>T (p.Thr479Ser) c.1366A>T (p.Thr456Ser) | |
2 | g.202552738C>A | CA350344452 | BMPR2 | c.1436C>A (p.Thr479Lys) c.1367C>A (p.Thr456Lys) | |
2 | g.202552738C>G | CA350344451 | BMPR2 | c.1436C>G (p.Thr479Arg) c.1367C>G (p.Thr456Arg) | |
2 | g.202552738C>T | CA350344450 | BMPR2 | c.1436C>T (p.Thr479Ile) c.1367C>T (p.Thr456Ile) | |
2 | g.202552739A>C | CA430859605 | BMPR2 | c.1437A>C (p.Thr479=) c.1368A>C (p.Thr456=) | |
2 | g.202552739A>G | CA430859608 | BMPR2 | c.1437A>G (p.Thr479=) c.1368A>G (p.Thr456=) | |
2 | g.202552739A>T | CA430859612 | BMPR2 | c.1437A>T (p.Thr479=) c.1368A>T (p.Thr456=) | |
2 | g.202552740A= | CA1321556436 | BMPR2 | c.1438A= (p.Ile480=) c.1369A= (p.Ile457=) | |
2 | g.202552740A>C | CA350344453 | BMPR2 | c.1438A>C (p.Ile480Leu) c.1369A>C (p.Ile457Leu) | |
2 | g.202552740A>G | CA2061378 | BMPR2 | c.1438A>G (p.Ile480Val) c.1369A>G (p.Ile457Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552740A>T | CA350344454 | BMPR2 | c.1438A>T (p.Ile480Phe) c.1369A>T (p.Ile457Phe) | |
2 | g.202552741T>A | CA350344455 | BMPR2 | c.1439T>A (p.Ile480Asn) c.1370T>A (p.Ile457Asn) | |
2 | g.202552741T>C | CA350344456 | BMPR2 | c.1439T>C (p.Ile480Thr) c.1370T>C (p.Ile457Thr) | dbSNP |
2 | g.202552741T>G | CA350344457 | BMPR2 | c.1439T>G (p.Ile480Ser) c.1370T>G (p.Ile457Ser) | |
2 | g.202552741T= | CA1321556439 | BMPR2 | c.1439T= (p.Ile480=) c.1370T= (p.Ile457=) |