Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202369396_202377723del | CA1139657640 | ClinVar | ||
2 | g.202373247_202381017del | CA915942366 | ClinVar | ||
2 | g.202377484_202377485dup | CA658761128 | BMPR2 | c.10_11dup (p.Leu5ArgfsTer?) | |
2 | g.202377484T>A | CA350396541 | BMPR2 | c.10T>A (p.Ser4Thr) | |
2 | g.202377484T>C | CA350396543 | BMPR2 | c.10T>C (p.Ser4Pro) | |
2 | g.202377484T>G | CA350396544 | BMPR2 | c.10T>G (p.Ser4Ala) | |
2 | g.202377485C>A | CA350396547 | BMPR2 | c.11C>A (p.Ser4Ter) | |
2 | g.202377485C= | CA1321474665 | BMPR2 | c.11C= (p.Ser4=) | |
2 | g.202377485C>G | CA350396548 | BMPR2 | c.11C>G (p.Ser4Trp) | |
2 | g.202377485C>T | CA64522359 | BMPR2 | c.11C>T (p.Ser4Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377485_202377486delinsCG | CA1321474666 | BMPR2 | c.11_12delinsCG (p.Ser4=) | |
2 | g.202377486del | CA1139657642 | BMPR2 | c.12del (p.Leu5CysfsTer?) | ClinVar dbSNP |
2 | g.202377486G>A | CA430892914 | BMPR2 | c.12G>A (p.Ser4=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377486G>C | CA430892915 | BMPR2 | c.12G>C (p.Ser4=) | gnomAD v4 |
2 | g.202377486G= | CA1321474667 | BMPR2 | c.12G= (p.Ser4=) | |
2 | g.202377486G>T | CA430892909 | BMPR2 | c.12G>T (p.Ser4=) | |
2 | g.202377487C>A | CA350396552 | BMPR2 | c.13C>A (p.Leu5Met) | |
2 | g.202377487C>G | CA350396554 | BMPR2 | c.13C>G (p.Leu5Val) | |
2 | g.202377487C>T | CA430892920 | BMPR2 | c.13C>T (p.Leu5=) | |
2 | g.202377488T>A | CA350396556 | BMPR2 | c.14T>A (p.Leu5Gln) | |
2 | g.202377488T>C | CA350396558 | BMPR2 | c.14T>C (p.Leu5Pro) | ClinVar |
2 | g.202377488T>G | CA350396559 | BMPR2 | c.14T>G (p.Leu5Arg) | dbSNP gnomAD v4 |
2 | g.202377488T= | CA1321474668 | BMPR2 | c.14T= (p.Leu5=) | |
2 | g.202377488_202377493delinsTGCAGC | CA1321474669 | BMPR2 | c.14_19delinsTGCAGC (p.Leu5=) | |
2 | g.202377489G>A | CA430892926 | BMPR2 | c.15G>A (p.Leu5=) | dbSNP |
2 | g.202377489G>C | CA430892928 | BMPR2 | c.15G>C (p.Leu5=) | |
2 | g.202377489G>T | CA430892930 | BMPR2 | c.15G>T (p.Leu5=) | |
2 | g.202377490_202377494del | CA645293856 | BMPR2 | c.16_20del (p.Gln6AlafsTer30) | ClinVar dbSNP |
2 | g.202377490C>A | CA350396562 | BMPR2 | c.16C>A (p.Gln6Lys) | |
2 | g.202377490C= | CA1321474670 | BMPR2 | c.16C= (p.Gln6=) | |
2 | g.202377490C>G | CA350396564 | BMPR2 | c.16C>G (p.Gln6Glu) | |
2 | g.202377490C>T | CA10587991 | BMPR2 | c.16C>T (p.Gln6Ter) | ClinVar dbSNP COSMIC |
2 | g.202377491A>C | CA350396566 | BMPR2 | c.17A>C (p.Gln6Pro) | |
2 | g.202377491A>G | CA350396570 | BMPR2 | c.17A>G (p.Gln6Arg) | |
2 | g.202377491A>T | CA350396569 | BMPR2 | c.17A>T (p.Gln6Leu) | |
2 | g.202377492G>A | CA430892941 | BMPR2 | c.18G>A (p.Gln6=) | gnomAD v4 |
2 | g.202377492G>C | CA350396573 | BMPR2 | c.18G>C (p.Gln6His) | |
2 | g.202377492G>T | CA350396574 | BMPR2 | c.18G>T (p.Gln6His) | |
2 | g.202377492_202377493delinsGC | CA1321474671 | BMPR2 | c.18_19delinsGC (p.Gln6=) | |
2 | g.202377493del | CA915942367 | BMPR2 | c.19del (p.Arg7GlyfsTer?) | ClinVar dbSNP |
2 | g.202377493C>A | CA2060997 | BMPR2 | c.19C>A (p.Arg7=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377493C= | CA1321474672 | BMPR2 | c.19C= (p.Arg7=) | |
2 | g.202377493C>G | CA350396577 | BMPR2 | c.19C>G (p.Arg7Gly) | gnomAD v4 |
2 | g.202377493C>T | CA350396579 | BMPR2 | c.19C>T (p.Arg7Trp) | gnomAD v4 |
2 | g.202377493_202377494delinsCG | CA1321474673 | BMPR2 | c.19_20delinsCG (p.Arg7=) | |
2 | g.202377494G>A | CA350396585 | BMPR2 | c.20G>A (p.Arg7Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377494G>C | CA350396583 | BMPR2 | c.20G>C (p.Arg7Pro) | |
2 | g.202377494G= | CA1321474675 | BMPR2 | c.20G= (p.Arg7=) | |
2 | g.202377494G>T | CA350396581 | BMPR2 | c.20G>T (p.Arg7Leu) | |
2 | g.202377495del | CA645293857 | BMPR2 | c.21del (p.Trp9GlyfsTer?) | ClinVar dbSNP |