Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86890164C>A | CA377446832 | BMPR1A | c.170C>A (p.Pro57His) | |
10 | g.86890164C= | CA1925706138 | BMPR1A | c.170C= (p.Pro57=) | |
10 | g.86890164C>G | CA16042120 | BMPR1A | c.170C>G (p.Pro57Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86890164C>T | CA377446838 | BMPR1A | c.170C>T (p.Pro57Leu) | |
10 | g.86890164_86890165delinsCT | CA1925706133 | BMPR1A | c.170_171delinsCT (p.Pro57=) | |
10 | g.86890165T>A | CA470304559 | BMPR1A | c.171T>A (p.Pro57=) | |
10 | g.86890165T>C | CA470304561 | BMPR1A | c.171T>C (p.Pro57=) | ClinVar dbSNP |
10 | g.86890165T>G | CA470304560 | BMPR1A | c.171T>G (p.Pro57=) | |
10 | g.86890170dup | CA2582342702 | BMPR1A | c.176dup (p.Leu59PhefsTer12) | |
10 | g.86890170del | CA186193 | BMPR1A | c.176del (p.Leu59Ter) | ClinVar dbSNP COSMIC COSMIC |
10 | g.86890166T>A | CA377446844 | BMPR1A | c.172T>A (p.Phe58Ile) | |
10 | g.86890166T>C | CA377446848 | BMPR1A | c.172T>C (p.Phe58Leu) | ClinVar |
10 | g.86890166T>G | CA377446853 | BMPR1A | c.172T>G (p.Phe58Val) | |
10 | g.86890167T>A | CA377446864 | BMPR1A | c.173T>A (p.Phe58Tyr) | ClinVar dbSNP COSMIC COSMIC |
10 | g.86890167T>C | CA377446872 | BMPR1A | c.173T>C (p.Phe58Ser) | |
10 | g.86890167T>G | CA377446868 | BMPR1A | c.173T>G (p.Phe58Cys) | ClinVar dbSNP |
10 | g.86890167T= | CA1925706147 | BMPR1A | c.173T= (p.Phe58=) | |
10 | g.86890168T>A | CA377446878 | BMPR1A | c.174T>A (p.Phe58Leu) | |
10 | g.86890168T>C | CA470304562 | BMPR1A | c.174T>C (p.Phe58=) | ClinVar dbSNP gnomAD v4 |
10 | g.86890168T>G | CA377446882 | BMPR1A | c.174T>G (p.Phe58Leu) | |
10 | g.86890168T= | CA1925706155 | BMPR1A | c.174T= (p.Phe58=) | |
10 | g.86890169T>A | CA377446888 | BMPR1A | c.175T>A (p.Leu59Ile) | |
10 | g.86890169T>C | CA470304563 | BMPR1A | c.175T>C (p.Leu59=) | |
10 | g.86890169T>G | CA377446891 | BMPR1A | c.175T>G (p.Leu59Val) | |
10 | g.86890170T>A | CA377446894 | BMPR1A | c.176T>A (p.Leu59Ter) | ClinVar dbSNP |
10 | g.86890170T>C | CA377446914 | BMPR1A | c.176T>C (p.Leu59Ser) | |
10 | g.86890170T>G | CA377446919 | BMPR1A | c.176T>G (p.Leu59Ter) | |
10 | g.86890170T= | CA1925706157 | BMPR1A | c.176T= (p.Leu59=) | |
10 | g.86890171A= | CA1925706158 | BMPR1A | c.177A= (p.Leu59=) | |
10 | g.86890171A>C | CA211182773 | BMPR1A | c.177A>C (p.Leu59Phe) | dbSNP COSMIC COSMIC |
10 | g.86890171A>G | CA470304564 | BMPR1A | c.177A>G (p.Leu59=) | ClinVar dbSNP gnomAD v4 |
10 | g.86890171A>T | CA377446923 | BMPR1A | c.177A>T (p.Leu59Phe) | |
10 | g.86890171_86890172insTATTTTTAAAAT | CA2540813684 | BMPR1A | c.177_178insTATTTTTAAAAT | |
10 | g.86890172A>C | CA377446938 | BMPR1A | c.178A>C (p.Lys60Gln) | |
10 | g.86890172A>G | CA377446935 | BMPR1A | c.178A>G (p.Lys60Glu) | |
10 | g.86890172A>T | CA377446927 | BMPR1A | c.178A>T (p.Lys60Ter) | |
10 | g.86890173A= | CA1925706159 | BMPR1A | c.179A= (p.Lys60=) | |
10 | g.86890173A>C | CA377446943 | BMPR1A | c.179A>C (p.Lys60Thr) | |
10 | g.86890173A>G | CA377446946 | BMPR1A | c.179A>G (p.Lys60Arg) | ClinVar dbSNP |
10 | g.86890173A>T | CA377446947 | BMPR1A | c.179A>T (p.Lys60Met) | |
10 | g.86890174G>A | CA470304566 | BMPR1A | c.180G>A (p.Lys60=) | |
10 | g.86890174G>C | CA377446954 | BMPR1A | c.180G>C (p.Lys60Asn) | |
10 | g.86890174G>T | CA377446958 | BMPR1A | c.180G>T (p.Lys60Asn) | |
10 | g.86890175_86890176dup | CA2582342703 | BMPR1A | c.181_182dup (p.Tyr62AlafsTer17) | |
10 | g.86890175T>A | CA377446975 | BMPR1A | c.181T>A (p.Cys61Ser) | |
10 | g.86890175T>C | CA377446973 | BMPR1A | c.181T>C (p.Cys61Arg) | |
10 | g.86890175T>G | CA377446961 | BMPR1A | c.181T>G (p.Cys61Gly) | |
10 | g.86890176G>A | CA377446980 | BMPR1A | c.182G>A (p.Cys61Tyr) | ClinVar gnomAD v4 COSMIC COSMIC |
10 | g.86890176G>C | CA377446981 | BMPR1A | c.182G>C (p.Cys61Ser) | |
10 | g.86890176G>T | CA377446982 | BMPR1A | c.182G>T (p.Cys61Phe) |