Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86890052_86890075del | CA2695212250 | BMPR1A | c.68-10_81del | |
10 | g.86890073_86890077del | CA2695200862 | BMPR1A | c.79_83del (p.Asp27TyrfsTer?) | ClinVar |
10 | g.86890073G>A | CA377446246 | BMPR1A | c.79G>A (p.Asp27Asn) | gnomAD v4 |
10 | g.86890073G>C | CA377446248 | BMPR1A | c.79G>C (p.Asp27His) | |
10 | g.86890073G= | CA1925720291 | BMPR1A | c.79G= (p.Asp27=) | |
10 | g.86890073G>T | CA377446249 | BMPR1A | c.79G>T (p.Asp27Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86890074A= | CA1925720298 | BMPR1A | c.80A= (p.Asp27=) | |
10 | g.86890074A>C | CA377446257 | BMPR1A | c.80A>C (p.Asp27Ala) | |
10 | g.86890074A>G | CA377446254 | BMPR1A | c.80A>G (p.Asp27Gly) | ClinVar dbSNP |
10 | g.86890074A>T | CA377446251 | BMPR1A | c.80A>T (p.Asp27Val) | |
10 | g.86890075T>A | CA377446259 | BMPR1A | c.81T>A (p.Asp27Glu) | |
10 | g.86890075T>C | CA470304480 | BMPR1A | c.81T>C (p.Asp27=) | ClinVar dbSNP |
10 | g.86890075T>G | CA377446261 | BMPR1A | c.81T>G (p.Asp27Glu) | |
10 | g.86890075T= | CA1925720301 | BMPR1A | c.81T= (p.Asp27=) | |
10 | g.86890076A= | CA1925720306 | BMPR1A | c.82A= (p.Ser28=) | |
10 | g.86890076A>C | CA377446263 | BMPR1A | c.82A>C (p.Ser28Arg) | |
10 | g.86890076A>G | CA377446265 | BMPR1A | c.82A>G (p.Ser28Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86890076A>T | CA377446268 | BMPR1A | c.82A>T (p.Ser28Cys) | |
10 | g.86890077G>A | CA336464 | BMPR1A | c.83G>A (p.Ser28Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86890077G>C | CA377446271 | BMPR1A | c.83G>C (p.Ser28Thr) | |
10 | g.86890077G= | CA1925720310 | BMPR1A | c.83G= (p.Ser28=) | |
10 | g.86890077G>T | CA377446273 | BMPR1A | c.83G>T (p.Ser28Ile) | |
10 | g.86890078T>A | CA377446274 | BMPR1A | c.84T>A (p.Ser28Arg) | |
10 | g.86890078T>C | CA470304483 | BMPR1A | c.84T>C (p.Ser28=) | |
10 | g.86890078T>G | CA377446277 | BMPR1A | c.84T>G (p.Ser28Arg) | |
10 | g.86890079A>C | CA377446279 | BMPR1A | c.85A>C (p.Met29Leu) | |
10 | g.86890079A>G | CA377446281 | BMPR1A | c.85A>G (p.Met29Val) | ClinVar gnomAD v4 |
10 | g.86890079A>T | CA377446283 | BMPR1A | c.85A>T (p.Met29Leu) | |
10 | g.86890080T>A | CA377446288 | BMPR1A | c.86T>A (p.Met29Lys) | |
10 | g.86890080T>C | CA377446290 | BMPR1A | c.86T>C (p.Met29Thr) | ClinVar dbSNP |
10 | g.86890080T>G | CA377446285 | BMPR1A | c.86T>G (p.Met29Arg) | |
10 | g.86890081G>A | CA377446293 | BMPR1A | c.87G>A (p.Met29Ile) | ClinVar |
10 | g.86890081G>C | CA377446294 | BMPR1A | c.87G>C (p.Met29Ile) | |
10 | g.86890081G>T | CA377446297 | BMPR1A | c.87G>T (p.Met29Ile) | ClinVar dbSNP |
10 | g.86890082C>A | CA377446299 | BMPR1A | c.88C>A (p.Leu30Ile) | |
10 | g.86890082C>G | CA377446301 | BMPR1A | c.88C>G (p.Leu30Val) | |
10 | g.86890082C>T | CA377446303 | BMPR1A | c.88C>T (p.Leu30Phe) | ClinVar |
10 | g.86890083T>A | CA377446306 | BMPR1A | c.89T>A (p.Leu30His) | |
10 | g.86890083T>C | CA377446308 | BMPR1A | c.89T>C (p.Leu30Pro) | ClinVar gnomAD v4 |
10 | g.86890083T>G | CA377446310 | BMPR1A | c.89T>G (p.Leu30Arg) | ClinVar dbSNP |
10 | g.86890083T= | CA1925720317 | BMPR1A | c.89T= (p.Leu30=) | |
10 | g.86890084T>A | CA470304487 | BMPR1A | c.90T>A (p.Leu30=) | |
10 | g.86890084T>C | CA470304485 | BMPR1A | c.90T>C (p.Leu30=) | ClinVar dbSNP gnomAD v4 |
10 | g.86890084T>G | CA470304486 | BMPR1A | c.90T>G (p.Leu30=) | |
10 | g.86890084T= | CA1925720323 | BMPR1A | c.90T= (p.Leu30=) | |
10 | g.86890085C>A | CA377446313 | BMPR1A | c.91C>A (p.His31Asn) | |
10 | g.86890085C>G | CA377446314 | BMPR1A | c.91C>G (p.His31Asp) | |
10 | g.86890085C>T | CA377446316 | BMPR1A | c.91C>T (p.His31Tyr) | gnomAD v4 |
10 | g.86890086A= | CA1925720328 | BMPR1A | c.92A= (p.His31=) | |
10 | g.86890086A>C | CA377446323 | BMPR1A | c.92A>C (p.His31Pro) | ClinVar dbSNP |